C213Y (p.Cys213Tyr) variant of PRPH2 (Peripherin-2)
C213Y (p.Cys213Tyr) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of PRPH2-related disorder; Retinal dystrophy; Stargardt disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
C213Y (p.Cys213Tyr) variant details
- p.Cys213Tyr
- rs61755803
- ClinGen CA226277
- ClinVar RCV000085003
- ClinVar RCV001052017
- Pathogenic/Likely pathogenic
- PRPH2-related disorder; Retinal dystrophy; Stargardt disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.95
- AlphaMissense 1.00
- MetaLR 0.84
- MetaSVM 0.88
- CADD 29.00
- PolyPhen-2 0.99
- ClinVar: Pathogenic/Likely pathogenic (PRPH2-related disorder; Retinal dystrophy; Stargardt disease)
- EBI: Pathogenic (in MDPT1)
- UniProt: Pathogenic (in MDPT1)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available