E417Q (p.Glu417Gln) variant of RPE65 (Retinoid isomerohydrolase)
E417Q (p.Glu417Gln) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of RPE65-related recessive retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
E417Q (p.Glu417Gln) variant details
- p.Glu417Gln
- rs62636299
- ClinGen CA226499
- ClinVar RCV000085160
- ClinVar RCV001074061
- Likely pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- REVEL 0.95
- MetaLR 0.98
- MetaSVM 1.07
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (RPE65-related recessive retinopathy)
- EBI: Pathogenic (in LCA2)
- UniProt: Pathogenic (in LCA2)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis. (PMID 11462243)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)