V16F (p.Val16Phe) variant of USH2A (Usherin)
V16F (p.Val16Phe) in USH2A (Usherin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
V16F (p.Val16Phe) variant details
- p.Val16Phe
- ExAC rs750448122
- gnomAD rs750448122
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.07
- AlphaMissense 0.09
- MetaLR 0.05
- MetaSVM -1.08
- CADD 7.06
- PolyPhen-2 0.78
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available