E417G (p.Glu417Gly) variant of RPE65 (Retinoid isomerohydrolase)
E417G (p.Glu417Gly) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Retinitis pigmentosa 20; Leber congenital amaurosis 2; Leber congenital amaurosi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
E417G (p.Glu417Gly) variant details
- p.Glu417Gly
- rs2523403039
- ClinGen CA340742706
- ClinVar RCV003790390
- ClinVar RCV005240933
- Likely pathogenic
- Retinitis pigmentosa 20; Leber congenital amaurosis 2; Leber congenital amaurosi
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.98
- MetaLR 0.98
- MetaSVM 1.08
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Retinitis pigmentosa 20; Leber congenital amaurosis 2; Leber con)
- EBI: Likely pathogenic (in LCA2)
- UniProt: Likely pathogenic (in LCA2)
- Most common in the African/African-American population (allele frequency 3e-05)
- 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)