D28V (p.Asp28Val) variant of USH1C (Harmonin)
D28V (p.Asp28Val) in USH1C (Harmonin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D28V (p.Asp28Val) variant details
- p.Asp28Val
- Ensembl rs1851069813
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.54
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.738