G528V (p.Gly528Val) variant of RPE65 (Retinoid isomerohydrolase)
G528V (p.Gly528Val) 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 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G528V (p.Gly528Val) variant details
- p.Gly528Val
- rs1193631220
- ClinGen CA340740566
- ClinVar RCV000986326
- ClinVar RCV005427492
- Likely pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- REVEL 0.98
- MetaLR 0.98
- MetaSVM 1.06
- CADD 26.30
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (RPE65-related recessive retinopathy)
- EBI: Pathogenic (in RP20)
- UniProt: Pathogenic (in RP20)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration. (PMID 11095629)
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)