R103C (p.Arg103Cys) variant of USH1C (Harmonin)
R103C (p.Arg103Cys) in USH1C (Harmonin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.83 / 1. The record also includes population frequency data and structural context.
R103C (p.Arg103Cys) variant details
- p.Arg103Cys
- rs397517880
- ClinGen CA142371
- cosmic curated COSV99140
- ClinVar RCV000041289
- Conflicting interpretations
- not provided; Usher syndrome type 1; Usher syndrome type 1C
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.83
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available