R206H (p.Arg206His) variant of KCNJ11 (Q14654)
R206H (p.Arg206His) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Familial hyperinsulinism; Hyperinsulinemic hypoglycemia, familial. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R206H (p.Arg206His) variant details
- p.Arg206His
- rs1554901747
- ClinGen CA379772144
- NCI-TCGA Cosmic COSV6059
- cosmic curated COSV60595
- Pathogenic/Likely pathogenic
- not provided; Familial hyperinsulinism; Hyperinsulinemic hypoglycemia, familial
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.98
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Familial hyperinsulinism; Hyperinsulinemic hypogly)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)