R118S (p.Arg118Ser) variant of RPE65 (Retinoid isomerohydrolase)
R118S (p.Arg118Ser) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R118S (p.Arg118Ser) variant details
- p.Arg118Ser
- rs1015895028
- ClinGen CA340748033
- ClinVar RCV001089893
- ClinVar RCV004595861
- Pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.87
- MetaLR 0.83
- MetaSVM 0.71
- CADD 29.00
- PolyPhen-2 0.77
- SIFT 0.01
- ClinVar: Pathogenic (RPE65-related recessive retinopathy)
- EBI: Pathogenic (in LCA2)
- UniProt: Pathogenic (in LCA2)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson… (PMID 17964524)
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)