R27C (p.Arg27Cys) variant of KCNJ11 (Q14654)
R27C (p.Arg27Cys) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Maturity-onset diabetes of the young; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R27C (p.Arg27Cys) variant details
- p.Arg27Cys
- rs752507753
- ClinGen CA277131
- ClinVar RCV000193401
- ClinVar RCV001277854
- Uncertain significance
- Maturity-onset diabetes of the young; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.49
- CADD 27.30
- PolyPhen-2 0.71
- SIFT 0.03
- ClinVar: Uncertain significance (Maturity-onset diabetes of the young; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)