Y2015H (p.Tyr2015His) variant of MYO7A (Unconventional myosin-VIIa)
Y2015H (p.Tyr2015His) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Usher syndrome type 1B; Usher syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
Y2015H (p.Tyr2015His) variant details
- p.Tyr2015His
- rs377640847
- ClinGen CA6198905
- ClinVar RCV001984277
- ClinVar RCV005433113
- Pathogenic/Likely pathogenic
- Usher syndrome type 1B; Usher syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.92
- CADD 29.90
- PolyPhen-2 0.73
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Usher syndrome type 1B; Usher syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available