P210R (p.Pro210Arg) variant of PRPH2 (Peripherin-2)
P210R (p.Pro210Arg) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P210R (p.Pro210Arg) variant details
- p.Pro210Arg
- rs61755798
- ClinGen CA122938
- ClinVar RCV000084997
- ClinVar RCV000322776
- Pathogenic/Likely pathogenic
- Patterned dystrophy of the retinal pigment epithelium; PRPH2-related disorder; R
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.89
- AlphaMissense 1.00
- MetaLR 0.84
- MetaSVM 0.88
- CADD 29.50
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Patterned dystrophy of the retinal pigment epithelium; PRPH2-rel)
- EBI: Pathogenic (in MDPT1 and RP7)
- UniProt: Pathogenic (in MDPT1 and RP7)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: A clinicopathologic study of a peculiar foveomacular dystrophy. (PMID 4142662)
- Cited in: Choroidal neovascularization in a patient with adult foveomacular dystrophy and a mutation in the retinal degeneration… (PMID 7519821)