D87G (p.Asp87Gly) variant of RPE65 (Retinoid isomerohydrolase)
D87G (p.Asp87Gly) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Leber congenital amaurosis 2; Retinitis pigmentosa 20. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
D87G (p.Asp87Gly) variant details
- p.Asp87Gly
- rs1645931040
- ClinGen CA340748527
- ClinVar RCV001923780
- gnomAD rs1645931040
- Uncertain significance
- Leber congenital amaurosis 2; Retinitis pigmentosa 20
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- MutPred 0.79
- ClinVar: Uncertain significance (Leber congenital amaurosis 2; Retinitis pigmentosa 20)
- 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)