C79R (p.Cys79Arg) variant of USH2A (Usherin)
C79R (p.Cys79Arg) in USH2A (Usherin) 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 0.58 / 1. The record also includes population frequency data and structural context.
C79R (p.Cys79Arg) variant details
- p.Cys79Arg
- rs2527654698
- ClinGen CA344904407
- ClinVar RCV003066074
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.56
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available