G25W (p.Gly25Trp) variant of MYO7A (Unconventional myosin-VIIa)
G25W (p.Gly25Trp) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in USH1B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
G25W (p.Gly25Trp) variant details
- p.Gly25Trp
- ExAC rs782252317
- TOPMed rs782252317
- gnomAD rs782252317
- Pathogenic
- in USH1B
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.92
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in USH1B)
- UniProt: Pathogenic (in USH1B)
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available