P470L (p.Pro470Leu) variant of RPE65 (Retinoid isomerohydrolase)
P470L (p.Pro470Leu) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of RPE65-related recessive retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
P470L (p.Pro470Leu) variant details
- p.Pro470Leu
- rs774211361
- ClinGen CA340741897
- NCI-TCGA Cosmic COSV5201
- ClinVar RCV001383020
- Likely pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- REVEL 0.97
- MetaLR 0.95
- MetaSVM 1.09
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (RPE65-related recessive retinopathy)
- EBI: Pathogenic (in LCA2)
- UniProt: Pathogenic (in LCA2)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Gene symbol: RPE65. Disease: Leber's congenital amaurosis. Accession #Hm0548. (PMID 17297704)
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)