M37K (p.Met37Lys) variant of USH1C (Harmonin)
M37K (p.Met37Lys) in USH1C (Harmonin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
M37K (p.Met37Lys) variant details
- p.Met37Lys
- 1000Genomes rs531538376
- ExAC rs531538376
- TOPMed rs531538376
- gnomAD rs531538376
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.41
- CADD 22.90
- PolyPhen-2 0.20
- SIFT 0.07
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available