G53R (p.Gly53Arg) variant of KCNJ11 (Q14654)
G53R (p.Gly53Arg) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Diabetes mellitus, transient neonatal, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
G53R (p.Gly53Arg) variant details
- p.Gly53Arg
- rs80356613
- ClinGen CA340811
- ClinVar RCV000009219
- UniProt VAR 026502
- Pathogenic
- Diabetes mellitus, transient neonatal, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- AlphaMissense 0.47
- MetaLR 0.83
- MetaSVM 0.53
- SIFT 0.59
- MutPred 0.89
- ClinVar: Pathogenic (Diabetes mellitus, transient neonatal, 3)
- EBI: Pathogenic (in TNDM3)
- UniProt: Pathogenic (in TNDM3)
- Structural context available
- Cited in: Relapsing diabetes can result from moderately activating mutations in KCNJ11. (PMID 15718250)
- Cited in: The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or… (PMID 15784703)