G105D (p.Gly105Asp) variant of USH1C (Harmonin)
G105D (p.Gly105Asp) in USH1C (Harmonin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes structural context.
G105D (p.Gly105Asp) variant details
- p.Gly105Asp
- rs999357481
- TOPMed rs999357481
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- AlphaMissense 0.99
- MetaLR 0.18
- MetaSVM -0.80
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.88
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available