M37V (p.Met37Val) variant of USH1C (Harmonin)
M37V (p.Met37Val) 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 and structural context.
M37V (p.Met37Val) variant details
- p.Met37Val
- gnomAD rs952524725
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.27
- CADD 23.30
- PolyPhen-2 0.40
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available