V43G (p.Val43Gly) variant of USH1C (Harmonin)
V43G (p.Val43Gly) 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 0.37 / 1. The record also includes experimental measurements and structural context.
V43G (p.Val43Gly) variant details
- p.Val43Gly
- rs1013399574
- ClinGen CA218465440
- ClinVar RCV001972910
- Ensembl rs1013399574
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- AlphaMissense 0.87
- MetaLR 0.15
- MetaSVM -0.88
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.56
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.544