H76R (p.His76Arg) variant of RPE65 (Retinoid isomerohydrolase)
H76R (p.His76Arg) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Leber congenital amaurosis 2; Retinitis pigmentosa 20. The record also includes variant effect predictions, published literature, and structural context.
H76R (p.His76Arg) variant details
- p.His76Arg
- rs1571172233
- ClinGen CA340748921
- ClinVar RCV001348498
- Ensembl rs1571172233
- Uncertain significance
- Leber congenital amaurosis 2; Retinitis pigmentosa 20
- Missense
- MutPred 0.45
- ClinVar: Uncertain significance (Leber congenital amaurosis 2; Retinitis pigmentosa 20)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)