C213W (p.Cys213Trp) variant of PRPH2 (Peripherin-2)
C213W (p.Cys213Trp) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Patterned dystrophy of the retinal pigment epithelium; PRPH2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
C213W (p.Cys213Trp) variant details
- p.Cys213Trp
- rs1800115811
- ClinGen CA364135582
- ClinVar RCV001211284
- ClinVar RCV001250309
- Pathogenic
- Patterned dystrophy of the retinal pigment epithelium; PRPH2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- AlphaMissense 1.00
- MetaLR 0.84
- MetaSVM 0.88
- SIFT 0.00
- MutPred 0.80
- ClinVar: Pathogenic (Patterned dystrophy of the retinal pigment epithelium; PRPH2-rel)
- EBI: Pathogenic (in MDPT1)
- UniProt: Pathogenic (in MDPT1)
- Structural context available