V452G (p.Val452Gly) variant of RPE65 (Retinoid isomerohydrolase)
V452G (p.Val452Gly) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
V452G (p.Val452Gly) variant details
- p.Val452Gly
- rs62637004
- ClinGen CA226509
- ClinVar RCV000013995
- ClinVar RCV000085169
- Likely pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.94
- MetaLR 0.93
- MetaSVM 1.04
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (RPE65-related recessive retinopathy)
- EBI: Pathogenic (in RP20)
- UniProt: Pathogenic (in RP20)
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. (PMID 9501220)
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)