R31G (p.Arg31Gly) variant of USH1C (Harmonin)
R31G (p.Arg31Gly) in USH1C (Harmonin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R31G (p.Arg31Gly) variant details
- p.Arg31Gly
- ExAC rs121908370
- TOPMed rs121908370
- gnomAD rs121908370
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.58
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.0357