W179G (p.Trp179Gly) variant of PRPH2 (Peripherin-2)
W179G (p.Trp179Gly) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pigmentary retinal dystrophy; Retinitis pigmentosa 7; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
W179G (p.Trp179Gly) variant details
- p.Trp179Gly
- rs61755796
- ClinGen CA364137343
- ClinVar RCV002249143
- ClinVar RCV003152791
- Likely pathogenic
- Pigmentary retinal dystrophy; Retinitis pigmentosa 7; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- AlphaMissense 0.99
- MetaLR 0.69
- MetaSVM 0.55
- SIFT 0.00
- MutPred 0.92
- ClinVar: Likely pathogenic (Pigmentary retinal dystrophy; Retinitis pigmentosa 7; Retinal dy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)