G9D (p.Gly9Asp) variant of USH2A (Usherin)
G9D (p.Gly9Asp) in USH2A (Usherin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
G9D (p.Gly9Asp) variant details
- p.Gly9Asp
- Ensembl rs2102789288
- Missense
- Variant Prioritization Score for Impact Estimate 0.0924
- REVEL 0.03
- CADD 4.51
- Most common in the HGDP:MAYA population (allele frequency 0.026)
- Structural context available