G104S (p.Gly104Ser) variant of RPE65 (Retinoid isomerohydrolase)
G104S (p.Gly104Ser) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Leber congenital amaurosis; Leber congenital amaurosis 2; Retinitis pigmentosa 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G104S (p.Gly104Ser) variant details
- p.Gly104Ser
- rs767478543
- ClinGen CA902547
- ClinVar RCV002634294
- ClinVar RCV003465996
- Pathogenic/Likely pathogenic
- Leber congenital amaurosis; Leber congenital amaurosis 2; Retinitis pigmentosa 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.83
- MetaLR 0.86
- MetaSVM 0.77
- CADD 28.30
- PolyPhen-2 0.95
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Leber congenital amaurosis; Leber congenital amaurosis 2; Retini)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)