P363H (p.Pro363His) variant of RPE65 (Retinoid isomerohydrolase)
P363H (p.Pro363His) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of RPE65-related recessive retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
P363H (p.Pro363His) variant details
- p.Pro363His
- rs1158240863
- ClinGen CA340744121
- ClinVar RCV003069411
- ClinVar RCV006451317
- Likely pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.85
- MetaLR 0.92
- MetaSVM 1.00
- CADD 27.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (RPE65-related recessive retinopathy)
- EBI: Likely pathogenic (in LCA2)
- UniProt: Likely pathogenic (in LCA2)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)