Y141C (p.Tyr141Cys) variant of PRPH2 (Peripherin-2)
Y141C (p.Tyr141Cys) 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; Retinitis pigmentosa 7; Pigmentary retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
Y141C (p.Tyr141Cys) variant details
- p.Tyr141Cys
- rs61755781
- ClinGen CA185988
- ClinVar RCV000084969
- ClinVar RCV000161145
- Pathogenic/Likely pathogenic
- PRPH2-related disorder; Retinitis pigmentosa 7; Pigmentary retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.88
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (PRPH2-related disorder; Retinitis pigmentosa 7; Pigmentary retin)
- EBI: Pathogenic (in RP7 and VMD3)
- UniProt: Pathogenic (in RP7 and VMD3)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A novel RDS/peripherin gene mutation associated with diverse macular phenotypes. (PMID 15370544)
- Cited in: Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known… (PMID 16799052)