V29A (p.Val29Ala) variant of USH1C (Harmonin)
V29A (p.Val29Ala) in USH1C (Harmonin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V29A (p.Val29Ala) variant details
- p.Val29Ala
- gnomAD rs1225585780
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.39
- CADD 24.80
- PolyPhen-2 0.98
- SIFT 0.10
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.733