V5G (p.Val5Gly) variant of USH1C (Harmonin)
V5G (p.Val5Gly) 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 0.43 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V5G (p.Val5Gly) variant details
- p.Val5Gly
- rs1851606530
- ClinGen CA379805207
- ClinVar RCV002572990
- TOPMed rs1851606530
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.24
- CADD 32.00
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.754