R172W (p.Arg172Trp) variant of PRPH2 (Peripherin-2)
R172W (p.Arg172Trp) 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.
R172W (p.Arg172Trp) variant details
- p.Arg172Trp
- rs61755792
- ClinGen CA122936
- ClinVar RCV000014056
- ClinVar RCV000084981
- Pathogenic/Likely pathogenic
- Patterned dystrophy of the retinal pigment epithelium; PRPH2-related disorder; R
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.67
- AlphaMissense 0.50
- MetaLR 0.40
- MetaSVM -0.24
- CADD 25.70
- PolyPhen-2 0.57
- ClinVar: Pathogenic/Likely pathogenic (Patterned dystrophy of the retinal pigment epithelium; PRPH2-rel)
- EBI: Pathogenic (in some patients with macular dystrophy)
- UniProt: Pathogenic (in some patients with macular dystrophy)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy. (PMID 7493155)
- Cited in: A variant of central areolar choroidal dystrophy. (PMID 8015786)