M32T (p.Met32Thr) variant of USH1C (Harmonin)
M32T (p.Met32Thr) in USH1C (Harmonin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M32T (p.Met32Thr) variant details
- p.Met32Thr
- rs376949470
- ClinGen CA5905184
- ClinVar RCV002588601
- ESP rs376949470
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- AlphaMissense 0.79
- MetaLR 0.13
- MetaSVM -0.96
- PolyPhen-2 0.98
- SIFT 0.59
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.827