R50Q (p.Arg50Gln) variant of KCNJ11 (Q14654)
R50Q (p.Arg50Gln) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Diabetes; not provided; Neonatal diabetes mellitus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
R50Q (p.Arg50Gln) variant details
- p.Arg50Gln
- rs80356611
- ClinGen CA214108
- ClinVar RCV000030103
- ClinVar RCV000518206
- Pathogenic/Likely pathogenic
- Diabetes; not provided; Neonatal diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- AlphaMissense 0.56
- MetaLR 0.83
- MetaSVM 0.79
- SIFT 0.02
- MutPred 0.67
- ClinVar: Pathogenic/Likely pathogenic (Diabetes; not provided; Neonatal diabetes mellitus)
- 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: Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional… (PMID 16731833)