V72L (p.Val72Leu) variant of USH1C (Harmonin)
V72L (p.Val72Leu) in USH1C (Harmonin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
V72L (p.Val72Leu) variant details
- p.Val72Leu
- ExAC rs763766845
- TOPMed rs763766845
- gnomAD rs763766845
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.13
- CADD 22.50
- PolyPhen-2 0.15
- SIFT 0.10
- 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 -0.759