D482G (p.Asp482Gly) variant of RPE65 (Retinoid isomerohydrolase)
D482G (p.Asp482Gly) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
D482G (p.Asp482Gly) variant details
- p.Asp482Gly
- rs749242996
- ClinGen CA902169
- ClinVar RCV001054425
- ClinVar RCV001559438
- Likely pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.97
- MetaLR 0.96
- MetaSVM 1.10
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (RPE65-related recessive retinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 7.5e-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)