G9R (p.Gly9Arg) variant of USH2A (Usherin)
G9R (p.Gly9Arg) in USH2A (Usherin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G9R (p.Gly9Arg) variant details
- p.Gly9Arg
- cosmic curated COSV56332
- ExAC rs749498075
- gnomAD rs749498075
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.03
- CADD 4.06
- PolyPhen-2 0.01
- SIFT 0.50
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available