C213S (p.Cys213Ser) variant of PRPH2 (Peripherin-2)
C213S (p.Cys213Ser) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of PRPH2-related disorder; Stargardt disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
C213S (p.Cys213Ser) variant details
- p.Cys213Ser
- rs61755802
- ClinGen CA364135597
- ClinVar RCV003757680
- Pathogenic
- PRPH2-related disorder; Stargardt disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.97
- AlphaMissense 1.00
- MetaLR 0.82
- MetaSVM 0.86
- CADD 29.90
- PolyPhen-2 0.99
- ClinVar: Pathogenic (PRPH2-related disorder)
- EBI: Pathogenic (in MDPT1)
- UniProt: Pathogenic (in MDPT1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available