P467A (p.Pro467Ala) variant of RPE65 (Retinoid isomerohydrolase)
P467A (p.Pro467Ala) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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.
P467A (p.Pro467Ala) variant details
- p.Pro467Ala
- rs1395763356
- ClinGen CA340741972
- ClinVar RCV001381888
- ClinVar RCV003469666
- Pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.89
- AlphaMissense 0.80
- MetaLR 0.92
- MetaSVM 1.04
- CADD 25.40
- PolyPhen-2 1.00
- ClinVar: Pathogenic (RPE65-related recessive retinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.0001)
- 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)