R206C (p.Arg206Cys) variant of KCNJ11 (Q14654)
R206C (p.Arg206Cys) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of KCNJ11-related disorder; not provided; Familial hyperinsulinism. 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.
R206C (p.Arg206Cys) variant details
- p.Arg206Cys
- rs775204908
- ClinGen CA5902273
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10037
- Pathogenic/Likely pathogenic
- KCNJ11-related disorder; not provided; Familial hyperinsulinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- REVEL 0.98
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (KCNJ11-related disorder; not provided; Familial hyperinsulinism)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)