V72M (p.Val72Met) variant of USH1C (Harmonin)
V72M (p.Val72Met) 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 0.47 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V72M (p.Val72Met) variant details
- p.Val72Met
- rs763766845
- ClinGen CA5905138
- ClinVar RCV002585574
- ExAC rs763766845
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.26
- CADD 24.10
- PolyPhen-2 0.43
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.759