D20Y (p.Asp20Tyr) variant of USH1C (Harmonin)
D20Y (p.Asp20Tyr) in USH1C (Harmonin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D20Y (p.Asp20Tyr) variant details
- p.Asp20Tyr
- TOPMed rs1380387191
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.41
- CADD 28.10
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.656