C58R (p.Cys58Arg) variant of USH2A (Usherin)
C58R (p.Cys58Arg) in USH2A (Usherin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
C58R (p.Cys58Arg) variant details
- p.Cys58Arg
- rs2039689429
- ClinGen CA344904689
- ClinVar RCV001928650
- gnomAD rs2039689429
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.47
- CADD 24.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available