P216L (p.Pro216Leu) variant of PRPH2 (Peripherin-2)
P216L (p.Pro216Leu) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
P216L (p.Pro216Leu) variant details
- p.Pro216Leu
- rs61755806
- ClinGen CA226285
- ClinVar RCV000014050
- ClinVar RCV000085007
- Pathogenic
- Patterned dystrophy of the retinal pigment epithelium; PRPH2-related disorder; R
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.65
- AlphaMissense 0.36
- MetaLR 0.62
- MetaSVM 0.12
- CADD 25.20
- PolyPhen-2 0.51
- ClinVar: 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 9e-07)
- Structural context available
- Cited in: Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. (PMID 1684223)
- Cited in: Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration. (PMID 8956033)