A434E (p.Ala434Glu) variant of RPE65 (Retinoid isomerohydrolase)
A434E (p.Ala434Glu) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
A434E (p.Ala434Glu) variant details
- p.Ala434Glu
- rs34627040
- ClinGen CA340742486
- ClinVar RCV001054822
- ClinVar RCV001250697
- Likely pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.77
- MetaLR 0.89
- MetaSVM 0.94
- CADD 23.50
- PolyPhen-2 0.76
- SIFT 0.20
- ClinVar: Likely pathogenic (RPE65-related recessive retinopathy)
- EBI: Pathogenic (in LCA2)
- UniProt: Pathogenic (in LCA2)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)