R4C (p.Arg4Cys) variant of KCNJ11 (Q14654)
R4C (p.Arg4Cys) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Type 2 diabetes mellitus; Diabetes mellitus, transient neonatal, 3; Hyperinsulin. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R4C (p.Arg4Cys) variant details
- p.Arg4Cys
- rs543286136
- ClinGen CA5902349
- NCI-TCGA Cosmic COSV1002
- ClinVar RCV001277856
- Uncertain significance
- Type 2 diabetes mellitus; Diabetes mellitus, transient neonatal, 3; Hyperinsulin
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.78
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Type 2 diabetes mellitus; Diabetes mellitus, transient neonatal,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)