R82P (p.Arg82Pro) variant of USH2A (Usherin)
R82P (p.Arg82Pro) in USH2A (Usherin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Usher syndrome type 2A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R82P (p.Arg82Pro) variant details
- p.Arg82Pro
- TOPMed rs1373263514
- gnomAD rs1373263514
- Uncertain significance
- Usher syndrome type 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.15
- CADD 21.20
- ClinVar: Uncertain significance (Usher syndrome type 2A)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available