D38A (p.Asp38Ala) variant of USH1C (Harmonin)
D38A (p.Asp38Ala) in USH1C (Harmonin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D38A (p.Asp38Ala) variant details
- p.Asp38Ala
- TOPMed rs1029936477
- gnomAD rs1029936477
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.27
- CADD 24.70
- PolyPhen-2 0.15
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.267