R44Q (p.Arg44Gln) variant of RPE65 (Retinoid isomerohydrolase)
R44Q (p.Arg44Gln) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of RPE65-related recessive retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
R44Q (p.Arg44Gln) variant details
- p.Arg44Gln
- rs61751282
- ClinGen CA226506
- NCI-TCGA Cosmic COSV5201
- ClinVar RCV000085166
- Pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- REVEL 0.97
- MetaLR 0.98
- MetaSVM 1.07
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (RPE65-related recessive retinopathy)
- EBI: Pathogenic (in LCA2)
- UniProt: Pathogenic (in LCA2)
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available
- Cited in: Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis. (PMID 11462243)
- Cited in: Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition… (PMID 15024725)