V39M (p.Val39Met) variant of USH1C (Harmonin)
V39M (p.Val39Met) in USH1C (Harmonin) is a missense change. Clinical records from ClinVar 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 0.40 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V39M (p.Val39Met) variant details
- p.Val39Met
- ExAC rs781491502
- TOPMed rs781491502
- gnomAD rs781491502
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.12
- CADD 25.30
- PolyPhen-2 0.85
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.942