E95G (p.Glu95Gly) variant of RPE65 (Retinoid isomerohydrolase)
E95G (p.Glu95Gly) 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 published literature and structural context.
E95G (p.Glu95Gly) variant details
- p.Glu95Gly
- rs2523445789
- ClinGen CA340748386
- ClinVar RCV003804757
- Uncertain significance
- Retinitis pigmentosa 20; Leber congenital amaurosis 2
- Missense
- ClinVar: Uncertain significance (Retinitis pigmentosa 20; Leber congenital amaurosis 2)
- EBI: Variant of uncertain significance (in RP20)
- UniProt: Uncertain significance (in RP20)
- 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)