G40S (p.Gly40Ser) variant of RPE65 (Retinoid isomerohydrolase)
G40S (p.Gly40Ser) 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 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G40S (p.Gly40Ser) variant details
- p.Gly40Ser
- rs61751281
- ClinGen CA226491
- ClinVar RCV000085155
- ClinVar RCV000132582
- Pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- REVEL 0.98
- MetaLR 0.99
- MetaSVM 1.04
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (RPE65-related recessive retinopathy)
- EBI: Pathogenic (in LCA2)
- UniProt: Pathogenic (in LCA2)
- Most common in the REMAINING population (allele frequency 0.00012)
- Structural context available
- Cited in: Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis. (PMID 11462243)
- Cited in: Evaluation of genotype-phenotype associations in leber congenital amaurosis. (PMID 16205573)