D14H (p.Asp14His) variant of USH1C (Harmonin)
D14H (p.Asp14His) in USH1C (Harmonin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D14H (p.Asp14His) variant details
- p.Asp14His
- TOPMed rs1305058607
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.09
- CADD 27.00
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.557