P363T (p.Pro363Thr) variant of RPE65 (Retinoid isomerohydrolase)
P363T (p.Pro363Thr) 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
P363T (p.Pro363Thr) variant details
- p.Pro363Thr
- rs121917744
- ClinGen CA256730
- ClinVar RCV000013996
- ClinVar RCV000815732
- Pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.70
- MetaLR 0.77
- MetaSVM 0.54
- CADD 22.80
- PolyPhen-2 0.25
- SIFT 0.10
- ClinVar: Pathogenic (RPE65-related recessive retinopathy)
- EBI: Pathogenic (in LCA2)
- UniProt: Pathogenic (in LCA2)
- Most common in the South Asian population (allele frequency 0.0001)
- Structural context available
- Cited in: Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis. (PMID 10090910)
- Cited in: Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition… (PMID 15024725)