R80P (p.Arg80Pro) variant of USH1C (Harmonin)
R80P (p.Arg80Pro) in USH1C (Harmonin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R80P (p.Arg80Pro) variant details
- p.Arg80Pro
- ESP rs148597739
- ExAC rs148597739
- TOPMed rs148597739
- gnomAD rs148597739
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.13
- CADD 29.20
- PolyPhen-2 0.51
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.678