G484V (p.Gly484Val) variant of RPE65 (Retinoid isomerohydrolase)
G484V (p.Gly484Val) 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 0.95 / 1. The record also includes population frequency data, published literature, and structural context.
G484V (p.Gly484Val) variant details
- p.Gly484Val
- rs62653015
- ClinGen CA902151
- ClinVar RCV001199757
- ClinVar RCV003769401
- Pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.946
- REVEL 0.99
- MetaLR 0.99
- MetaSVM 1.03
- CADD 34.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (RPE65-related recessive retinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- 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)