L65M (p.Leu65Met) variant of USH1C (Harmonin)
L65M (p.Leu65Met) in USH1C (Harmonin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L65M (p.Leu65Met) variant details
- p.Leu65Met
- TOPMed rs1850976270
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.13
- CADD 23.60
- PolyPhen-2 0.58
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.412