E148D (p.Glu148Asp) variant of RPE65 (Retinoid isomerohydrolase)
E148D (p.Glu148Asp) 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 0.94 / 1. The record also includes published literature and structural context.
E148D (p.Glu148Asp) variant details
- p.Glu148Asp
- rs61752882
- ClinGen CA226553
- ClinVar RCV000085200
- ClinVar RCV001250685
- Likely pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.936
- MutPred 0.94
- ClinVar: Likely pathogenic (Leber congenital amaurosis)
- EBI: Pathogenic (in LCA2)
- UniProt: Pathogenic (in LCA2)
- Structural context available
- Cited in: Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition… (PMID 15024725)
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)