R103P (p.Arg103Pro) variant of USH1C (Harmonin)
R103P (p.Arg103Pro) 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 0.64 / 1. The record also includes population frequency data and structural context.
R103P (p.Arg103Pro) variant details
- p.Arg103Pro
- rs397514500
- ClinGen CA218464934
- ClinVar RCV002632131
- ExAC rs397514500
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.69
- AlphaMissense 0.11
- MetaLR 0.08
- MetaSVM -0.99
- CADD 28.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available