Y431H (p.Tyr431His) variant of RPE65 (Retinoid isomerohydrolase)
Y431H (p.Tyr431His) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
Y431H (p.Tyr431His) variant details
- p.Tyr431His
- rs985047210
- ClinGen CA23564019
- ClinVar RCV002770833
- ClinVar RCV004794594
- Pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.87
- MetaLR 0.89
- MetaSVM 0.89
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (RPE65-related recessive retinopathy)
- EBI: Pathogenic (in LCA2)
- UniProt: Pathogenic (in LCA2)
- Most common in the Amish population (allele frequency 0.024)
- 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)