G167D (p.Gly167Asp) variant of PRPH2 (Peripherin-2)
G167D (p.Gly167Asp) 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 PRPH2-related disorder; not provided; Choroidal dystrophy, central areolar 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G167D (p.Gly167Asp) variant details
- p.Gly167Asp
- rs61755789
- ClinGen CA122934
- ClinVar RCV000014055
- ClinVar RCV000084977
- Pathogenic/Likely pathogenic
- PRPH2-related disorder; not provided; Choroidal dystrophy, central areolar 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.978
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.08
- SIFT 0.00
- MutPred 0.93
- ClinVar: Pathogenic/Likely pathogenic (PRPH2-related disorder; not provided; Choroidal dystrophy, centr)
- EBI: Pathogenic (in MDPT1)
- UniProt: Pathogenic (in MDPT1)
- Structural context available
- Cited in: Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. (PMID 8485574)
- Cited in: A novel mutation in the RDS gene in an Italian family with pattern dystrophy. (PMID 16024869)