P467S (p.Pro467Ser) variant of RPE65 (Retinoid isomerohydrolase)
P467S (p.Pro467Ser) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of RPE65-related recessive retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
P467S (p.Pro467Ser) variant details
- p.Pro467Ser
- rs1395763356
- ClinGen CA340741969
- NCI-TCGA Cosmic COSV9925
- ClinVar RCV000678615
- Pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- AlphaMissense 0.80
- MetaLR 0.92
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.59
- ClinVar: Pathogenic (RPE65-related recessive retinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)
- Cited in: Autosomal Recessive RPE65-Related Retinal Degeneration. (PMID 31725251)