Y431C (p.Tyr431Cys) variant of RPE65 (Retinoid isomerohydrolase)
Y431C (p.Tyr431Cys) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
Y431C (p.Tyr431Cys) variant details
- p.Tyr431Cys
- rs62636300
- ClinGen CA226500
- ClinVar RCV000022754
- ClinVar RCV000085161
- Likely pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.94
- MetaLR 0.93
- MetaSVM 1.05
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (RPE65-related recessive retinopathy)
- EBI: Pathogenic (in LCA2)
- UniProt: Pathogenic (in LCA2)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations. (PMID 14962443)
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)