V39A (p.Val39Ala) variant of USH1C (Harmonin)
V39A (p.Val39Ala) in USH1C (Harmonin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
V39A (p.Val39Ala) variant details
- p.Val39Ala
- rs2497228455
- ClinGen CA379798823
- ClinVar RCV002796248
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.20
- CADD 26.50
- PolyPhen-2 0.70
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.942