S50C (p.Ser50Cys) variant of USH2A (Usherin)
S50C (p.Ser50Cys) in USH2A (Usherin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S50C (p.Ser50Cys) variant details
- p.Ser50Cys
- 1000Genomes rs200075564
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.17
- CADD 23.20
- PolyPhen-2 0.82
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available