D45G (p.Asp45Gly) variant of USH1C (Harmonin)
D45G (p.Asp45Gly) in USH1C (Harmonin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D45G (p.Asp45Gly) variant details
- p.Asp45Gly
- gnomAD rs1592024029
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.45
- CADD 29.60
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.911