V43L (p.Val43Leu) variant of USH1C (Harmonin)
V43L (p.Val43Leu) 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 0.43 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V43L (p.Val43Leu) variant details
- p.Val43Leu
- rs145500807
- cosmic curated COSV50021
- ClinGen CA379798717
- ClinVar RCV001341656
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.18
- CADD 24.20
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.544