R201H (p.Arg201His) variant of KCNJ11 (Q14654)
R201H (p.Arg201His) 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; not provided; Neonatal diabetes mellitu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
R201H (p.Arg201His) variant details
- p.Arg201His
- rs80356624
- ClinGen CA119821
- ClinVar RCV000009198
- ClinVar RCV000009200
- Pathogenic
- Diabetes mellitus, permanent neonatal 2; not provided; Neonatal diabetes mellitu
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- REVEL 0.98
- AlphaMissense 0.95
- MetaLR 0.97
- MetaSVM 1.10
- CADD 26.20
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Diabetes mellitus, permanent neonatal 2; not provided; Neonatal)
- EBI: Pathogenic (in PNDM2)
- UniProt: Pathogenic (in PNDM2)
- Population evidence available
- 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)