H76P (p.His76Pro) variant of RPE65 (Retinoid isomerohydrolase)
H76P (p.His76Pro) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Leber congenital amaurosis. The record also includes structural context.
H76P (p.His76Pro) variant details
- p.His76Pro
- rs1571172233
- ClinGen CA340748920
- ClinVar RCV001003188
- Ensembl rs1571172233
- Pathogenic
- Leber congenital amaurosis
- Missense
- ClinVar: Pathogenic (Leber congenital amaurosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available