E95Q (p.Glu95Gln) variant of RPE65 (Retinoid isomerohydrolase)
E95Q (p.Glu95Gln) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The record also includes variant effect predictions, published literature, and structural context.
E95Q (p.Glu95Gln) variant details
- p.Glu95Gln
- rs61752874
- ClinGen CA226535
- NCI-TCGA Cosmic COSV5201
- ClinVar RCV000085188
- Likely pathogenic
- not provided
- Missense
- MutPred 0.69
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in RP20)
- UniProt: Pathogenic (in RP20)
- Structural context available
- Cited in: Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration. (PMID 11095629)
- Cited in: A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal… (PMID 12960219)