D60V (p.Asp60Val) variant of USH1C (Harmonin)
D60V (p.Asp60Val) in USH1C (Harmonin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D60V (p.Asp60Val) variant details
- p.Asp60Val
- TOPMed rs1850978124
- gnomAD rs1850978124
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.32
- CADD 25.20
- PolyPhen-2 0.25
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.382