M32I (p.Met32Ile) variant of USH1C (Harmonin)
M32I (p.Met32Ile) in USH1C (Harmonin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M32I (p.Met32Ile) variant details
- p.Met32Ile
- rs1294493185
- ClinGen CA379800359
- ClinVar RCV003155719
- TOPMed rs1294493185
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- AlphaMissense 0.83
- MetaLR 0.12
- MetaSVM -0.99
- PolyPhen-2 0.92
- SIFT 0.13
- MutPred 0.48
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.827