R10L (p.Arg10Leu) variant of USH1C (Harmonin)
R10L (p.Arg10Leu) in USH1C (Harmonin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R10L (p.Arg10Leu) variant details
- p.Arg10Leu
- TOPMed rs1457882210
- gnomAD rs1457882210
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.16
- CADD 25.30
- PolyPhen-2 0.06
- SIFT 0.03
- Population evidence available
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.81