R142W (p.Arg142Trp) variant of PRPH2 (Peripherin-2)
R142W (p.Arg142Trp) 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 Patterned dystrophy of the retinal pigment epithelium; PRPH2-related disorder; R. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R142W (p.Arg142Trp) variant details
- p.Arg142Trp
- rs61755783
- ClinGen CA122946
- ClinVar RCV000014071
- ClinVar RCV000084971
- Pathogenic/Likely pathogenic
- Patterned dystrophy of the retinal pigment epithelium; PRPH2-related disorder; R
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.64
- CADD 25.10
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Patterned dystrophy of the retinal pigment epithelium; PRPH2-rel)
- EBI: Pathogenic (in RP7)
- UniProt: Pathogenic (in RP7)
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- Cited in: Next-generation genetic testing for retinitis pigmentosa. (PMID 22334370)
- Cited in: Autosomal dominant central areolar choroidal dystrophy caused by a mutation in codon 142 in the peripherin/RDS gene. (PMID 8644804)