R63W (p.Arg63Trp) variant of USH1C (Harmonin)
R63W (p.Arg63Trp) 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 0.39 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R63W (p.Arg63Trp) variant details
- p.Arg63Trp
- rs375741564
- ClinGen CA5905144
- cosmic curated COSV99142
- ClinVar RCV000664634
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.36
- CADD 26.10
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.397
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Usher Syndrome Type I. (PMID 20301442)