Q52R (p.Gln52Arg) variant of KCNJ11 (Q14654)
Q52R (p.Gln52Arg) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Transitory neonatal diabetes mellitus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes published literature and structural context.
Q52R (p.Gln52Arg) variant details
- p.Gln52Arg
- rs193929337
- ClinGen CA341718
- ClinVar RCV000020348
- ClinVar RCV002227044
- Benign
- Transitory neonatal diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- AlphaMissense 0.30
- MetaLR 0.19
- MetaSVM -0.87
- SIFT 0.69
- MutPred 0.76
- ClinVar: Benign (Transitory neonatal diabetes mellitus)
- EBI: Pathogenic (in PNDM2)
- UniProt: Pathogenic (in PNDM2)
- Structural context available
- Cited in: Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal… (PMID 15115830)
- Cited in: Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features. (PMID 15583126)