R103H (p.Arg103His) variant of USH1C (Harmonin)
R103H (p.Arg103His) in USH1C (Harmonin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Usher syndrome type 1; Usher syndrome type 1C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R103H (p.Arg103His) variant details
- p.Arg103His
- rs397514500
- ClinGen CA261116
- cosmic curated COSV50015
- ClinVar RCV000032622
- Pathogenic/Likely pathogenic
- not provided; Usher syndrome type 1; Usher syndrome type 1C
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.58
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Usher syndrome type 1; Usher syndrome type 1C)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Cited in: Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and… (PMID 16679490)
- Cited in: Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss. (PMID 21487335)