R103S (p.Arg103Ser) variant of USH1C (Harmonin)
R103S (p.Arg103Ser) 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 0.57 / 1. The record also includes population frequency data and structural context.
R103S (p.Arg103Ser) variant details
- p.Arg103Ser
- rs397517880
- ClinGen CA379797139
- ClinVar RCV001368100
- 1000Genomes rs397517880
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.41
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (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