R31W (p.Arg31Trp) variant of KCNJ11 (Q14654)
R31W (p.Arg31Trp) 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 type 13; Diabetes mellitus, transient neona. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R31W (p.Arg31Trp) variant details
- p.Arg31Trp
- rs757621300
- ClinGen CA5902335
- ClinVar RCV001105581
- ClinVar RCV001105582
- Uncertain significance
- Maturity-onset diabetes of the young type 13; Diabetes mellitus, transient neona
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.51
- CADD 23.00
- PolyPhen-2 0.85
- SIFT 0.07
- ClinVar: Uncertain significance (Maturity-onset diabetes of the young type 13; Diabetes mellitus,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)