S57R (p.Ser57Arg) variant of PRPH2 (Peripherin-2)
S57R (p.Ser57Arg) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PRPH2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
S57R (p.Ser57Arg) variant details
- p.Ser57Arg
- rs1761917045
- ClinGen CA364138564
- ClinVar RCV001344203
- Ensembl rs1761917045
- Uncertain significance
- PRPH2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.59
- CADD 24.80
- PolyPhen-2 0.98
- SIFT 0.04
- ClinVar: Uncertain significance (PRPH2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available