G53D (p.Gly53Asp) variant of KCNJ11 (Q14654)
G53D (p.Gly53Asp) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Neonatal hypoglycemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
G53D (p.Gly53Asp) variant details
- p.Gly53Asp
- rs80356615
- ClinGen CA119837
- ClinVar RCV000009222
- ClinVar RCV000020349
- Benign
- Neonatal hypoglycemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- AlphaMissense 0.86
- MetaLR 0.90
- MetaSVM 0.96
- SIFT 0.15
- MutPred 0.93
- ClinVar: Benign (Neonatal hypoglycemia)
- EBI: Pathogenic (in PNDM2)
- UniProt: Pathogenic (in PNDM2)
- Structural context available
- Cited in: Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with… (PMID 16609879)
- Cited in: The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is… (PMID 18073297)