C3Y (p.Cys3Tyr) variant of USH2A (Usherin)
C3Y (p.Cys3Tyr) in USH2A (Usherin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Usher syndrome type 2A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
C3Y (p.Cys3Tyr) variant details
- p.Cys3Tyr
- ExAC rs772068113
- gnomAD rs772068113
- Uncertain significance
- Usher syndrome type 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0669
- REVEL 0.05
- CADD 5.35
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (Usher syndrome type 2A)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available