Variant/family no. | Variant | Predictive tools | Conservation | gnomAD AF | ||
---|---|---|---|---|---|---|
1 | c957+1G>T homozygous GRCh37:g.14504577C>A | Human Splicing Finder Donor site loss (− 26.84) Splice Site Prediction by Neural Network Donor site loss (Mutant score = 0) MaxEntScan Donor site loss (− 78.36) SpliceAI Donor site loss New donor site created causing a 1 nucleotide frameshift | Absent | |||
2 | c.1651T>G (p.Phe551Val) homozygous GRCh37:g.14496127A>C | Polyphen-2 | Probably damaging | Nucleotide conservation | PhyloP 5.21 (strongly conserved) | Absent |
SIFT | Deleterious | Amino acid conservation | High, to Baker’s Yeast ConSurf 8/9 | |||
CADD (Phred) | 32 |