W179C (p.Trp179Cys) variant of PRPH2 (Peripherin-2)
W179C (p.Trp179Cys) 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 not provided; Retinal dystrophy; Patterned dystrophy of the retinal pigment epit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
W179C (p.Trp179Cys) variant details
- p.Trp179Cys
- rs779414078
- ClinGen CA3808597
- ClinVar RCV001075367
- ClinVar RCV001213611
- Pathogenic/Likely pathogenic
- not provided; Retinal dystrophy; Patterned dystrophy of the retinal pigment epit
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.88
- AlphaMissense 1.00
- MetaLR 0.72
- MetaSVM 0.54
- CADD 29.20
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Retinal dystrophy; Patterned dystrophy of the reti)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available