V473D (p.Val473Asp) variant of RPE65 (Retinoid isomerohydrolase)
V473D (p.Val473Asp) 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.
V473D (p.Val473Asp) variant details
- p.Val473Asp
- rs62637007
- ClinGen CA226515
- ClinVar RCV000085173
- ClinVar RCV001250706
- Likely pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.99
- MetaLR 0.97
- MetaSVM 1.10
- CADD 29.00
- 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 South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition… (PMID 15024725)
- Cited in: Evaluation of genotype-phenotype associations in leber congenital amaurosis. (PMID 16205573)