G32C (p.Gly32Cys) variant of RPE65 (Retinoid isomerohydrolase)
G32C (p.Gly32Cys) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Retinitis pigmentosa 20; Leber congenital amaurosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
G32C (p.Gly32Cys) variant details
- p.Gly32Cys
- rs768448761
- ClinGen CA902623
- NCI-TCGA Cosmic COSV5201
- ClinVar RCV001380405
- Pathogenic
- Retinitis pigmentosa 20; Leber congenital amaurosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.93
- REVEL 0.96
- MetaLR 1.00
- MetaSVM 0.88
- CADD 36.00
- PolyPhen-2 0.91
- SIFT 0.01
- ClinVar: Pathogenic (Retinitis pigmentosa 20; Leber congenital amaurosis 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-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)