I21V (p.Ile21Val) variant of USH2A (Usherin)
I21V (p.Ile21Val) in USH2A (Usherin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
I21V (p.Ile21Val) variant details
- p.Ile21Val
- ExAC rs757708683
- gnomAD rs757708683
- Missense
- Variant Prioritization Score for Impact Estimate 0.0432
- REVEL 0.03
- CADD 0.72
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available