E74Q (p.Glu74Gln) variant of RPE65 (Retinoid isomerohydrolase)
E74Q (p.Glu74Gln) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinitis pigmentosa 20; Leber congenital amaurosis 2. The record also includes variant effect predictions, published literature, and structural context.
E74Q (p.Glu74Gln) variant details
- p.Glu74Gln
- rs2100831197
- ClinGen CA340748934
- ClinVar RCV001876355
- Ensembl rs2100831197
- Uncertain significance
- Retinitis pigmentosa 20; Leber congenital amaurosis 2
- Missense
- MutPred 0.52
- ClinVar: Uncertain significance (Retinitis pigmentosa 20; Leber congenital amaurosis 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)