G35C (p.Gly35Cys) variant of USH2A (Usherin)
G35C (p.Gly35Cys) in USH2A (Usherin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
G35C (p.Gly35Cys) variant details
- p.Gly35Cys
- TOPMed rs984551430
- gnomAD rs984551430
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.52
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available