P111H (p.Pro111His) variant of RPE65 (Retinoid isomerohydrolase)
P111H (p.Pro111His) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
P111H (p.Pro111His) variant details
- p.Pro111His
- rs2100828238
- ClinGen CA340748180
- ClinVar RCV001591852
- Ensembl rs2100828238
- Uncertain significance
- Leber congenital amaurosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- MutPred 0.83
- ClinVar: Uncertain significance (Leber congenital amaurosis 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)