R201L (p.Arg201Leu) variant of KCNJ11 (Q14654)
R201L (p.Arg201Leu) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Diabetes mellitus, permanent neonatal 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
R201L (p.Arg201Leu) variant details
- p.Arg201Leu
- rs80356624
- ClinGen CA341724
- ClinVar RCV000020355
- UniProt VAR 031344
- Likely pathogenic
- Diabetes mellitus, permanent neonatal 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.97
- AlphaMissense 0.95
- MetaLR 0.97
- MetaSVM 1.10
- SIFT 0.00
- MutPred 0.99
- ClinVar: Likely pathogenic (Diabetes mellitus, permanent neonatal 2)
- 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: Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal… (PMID 15115830)