R201C (p.Arg201Cys) variant of KCNJ11 (Q14654)
R201C (p.Arg201Cys) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Diabetes mellitus, permanent neonatal 2; Diabetes mellitus, transient neonatal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
R201C (p.Arg201Cys) variant details
- p.Arg201Cys
- rs80356625
- ClinGen CA119825
- ClinVar RCV000009202
- ClinVar RCV000146113
- Pathogenic
- Diabetes mellitus, permanent neonatal 2; Diabetes mellitus, transient neonatal
- Missense
- Variant Prioritization Score for Impact Estimate 0.96
- AlphaMissense 0.92
- MetaLR 0.97
- MetaSVM 1.10
- SIFT 0.00
- MutPred 0.98
- ClinVar: Pathogenic (Diabetes mellitus, permanent neonatal 2; Diabetes mellitus, tran)
- EBI: Pathogenic (in PNDM2)
- UniProt: Pathogenic (in PNDM2)
- Structural context available
- Cited in: Molecular basis for Kir6.2 channel inhibition by adenine nucleotides. (PMID 12524280)
- Cited in: Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal… (PMID 15115830)