L56M (p.Leu56Met) variant of USH1C (Harmonin)
L56M (p.Leu56Met) in USH1C (Harmonin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L56M (p.Leu56Met) variant details
- p.Leu56Met
- ExAC rs774197490
- gnomAD rs774197490
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.19
- CADD 25.10
- PolyPhen-2 0.92
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.0604