H68P (p.His68Pro) variant of RPE65 (Retinoid isomerohydrolase)
H68P (p.His68Pro) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital isolated adrenocorticotropic hormone deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
H68P (p.His68Pro) variant details
- p.His68Pro
- rs1557603862
- ClinGen CA340749000
- ClinVar RCV000754598
- Ensembl rs1557603862
- Uncertain significance
- Congenital isolated adrenocorticotropic hormone deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- MutPred 0.86
- ClinVar: Uncertain significance (Congenital isolated adrenocorticotropic hormone deficiency)
- EBI: Variant of uncertain significance (in LCA2)
- UniProt: Uncertain significance (in LCA2)
- Structural context available