V43M (p.Val43Met) variant of USH1C (Harmonin)
V43M (p.Val43Met) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V43M (p.Val43Met) variant details
- p.Val43Met
- rs145500807
- ClinGen CA142295
- cosmic curated COSV50014
- ClinVar RCV000041252
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.22
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.544
- Cited in: Usher Syndrome Type I. (PMID 20301442)
- Cited in: Clinical utility gene card for: Usher syndrome. (PMID 21697857)