M37T (p.Met37Thr) variant of USH1C (Harmonin)
M37T (p.Met37Thr) in USH1C (Harmonin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
M37T (p.Met37Thr) variant details
- p.Met37Thr
- 1000Genomes rs531538376
- ExAC rs531538376
- TOPMed rs531538376
- gnomAD rs531538376
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.32
- CADD 23.50
- PolyPhen-2 0.12
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available