L185P (p.Leu185Pro) variant of PRPH2 (Peripherin-2)
L185P (p.Leu185Pro) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
L185P (p.Leu185Pro) variant details
- p.Leu185Pro
- rs121918563
- ClinGen CA122928
- ClinVar RCV000014051
- ClinVar RCV000084987
- Pathogenic/Likely pathogenic
- Patterned dystrophy of the retinal pigment epithelium; PRPH2-related disorder; R
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.92
- CADD 29.10
- PolyPhen-2 0.99
- 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 Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Molecular characterization of peripherin-2 and rom-1 mutants responsible for digenic retinitis pigmentosa. (PMID 11297544)
- Cited in: Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. (PMID 1684223)