C766Y (p.Cys766Tyr) variant of USH2A (Usherin)
C766Y (p.Cys766Tyr) in USH2A (Usherin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Usher syndrome type 2A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
C766Y (p.Cys766Tyr) variant details
- p.Cys766Tyr
- rs2036066367
- ClinGen CA344865203
- ClinVar RCV001981361
- Ensembl rs2036066367
- Pathogenic/Likely pathogenic
- not provided; Usher syndrome type 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.95
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Usher syndrome type 2A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available