R83G (p.Arg83Gly) variant of USH1C (Harmonin)
R83G (p.Arg83Gly) in USH1C (Harmonin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R83G (p.Arg83Gly) variant details
- p.Arg83Gly
- gnomAD rs1422895060
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.23
- CADD 35.00
- PolyPhen-2 0.53
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.238