G40D (p.Gly40Asp) variant of RPE65 (Retinoid isomerohydrolase)
G40D (p.Gly40Asp) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Retinitis pigmentosa 20; Leber congenital amaurosis 2. 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.
G40D (p.Gly40Asp) variant details
- p.Gly40Asp
- rs2523452284
- ClinGen CA340749254
- ClinVar RCV003133792
- ClinVar RCV003778716
- Likely pathogenic
- not provided; Retinitis pigmentosa 20; Leber congenital amaurosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- REVEL 0.99
- MetaLR 0.99
- MetaSVM 1.04
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Retinitis pigmentosa 20; Leber congenital amaurosi)
- EBI: Pathogenic (in LCA2)
- UniProt: Pathogenic (in LCA2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani… (PMID 28418496)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)