V59G (p.Val59Gly) variant of KCNJ11 (Q14654)
V59G (p.Val59Gly) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Transitory neonatal diabetes mellitus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
V59G (p.Val59Gly) variant details
- p.Val59Gly
- rs80356617
- ClinGen CA119827
- ClinVar RCV000009204
- ClinVar RCV000020350
- Likely benign
- Transitory neonatal diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- AlphaMissense 0.76
- MetaLR 0.86
- MetaSVM 0.90
- SIFT 0.00
- MutPred 0.94
- ClinVar: Likely 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)