G75E (p.Gly75Glu) variant of RPE65 (Retinoid isomerohydrolase)
G75E (p.Gly75Glu) 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; Retinitis pigmentosa 87 with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G75E (p.Gly75Glu) variant details
- p.Gly75Glu
- rs201062742
- ClinGen CA902578
- ClinVar RCV000326761
- ClinVar RCV000381272
- Uncertain significance
- Leber congenital amaurosis 2; Retinitis pigmentosa; Retinitis pigmentosa 87 with
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.88
- MetaLR 0.96
- MetaSVM 1.07
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Leber congenital amaurosis 2; Retinitis pigmentosa; Retinitis pi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- 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)