G53V (p.Gly53Val) variant of RPE65 (Retinoid isomerohydrolase)
G53V (p.Gly53Val) 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.
G53V (p.Gly53Val) variant details
- p.Gly53Val
- rs763536294
- ClinGen CA340749110
- ClinVar RCV001914725
- ExAC rs763536294
- Uncertain significance
- Retinitis pigmentosa 20; Leber congenital amaurosis 2
- Missense
- MutPred 0.68
- 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)