C82F (p.Cys82Phe) variant of PRPH2 (Peripherin-2)
C82F (p.Cys82Phe) 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 0.86 / 1. The record also includes population frequency data and structural context.
C82F (p.Cys82Phe) variant details
- p.Cys82Phe
- rs2548309832
- ClinGen CA364138161
- ClinVar RCV003592826
- Uncertain significance
- PRPH2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.91
- CADD 25.60
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (PRPH2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available