R29H (p.Arg29His) variant of KCNJ11 (Q14654)
R29H (p.Arg29His) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Diabetes mellitus, transient neonatal, 3; Type 2 diabetes mellitus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R29H (p.Arg29His) variant details
- p.Arg29His
- rs988002138
- ClinGen CA218400191
- ClinVar RCV001757910
- ClinVar RCV005040346
- Uncertain significance
- not provided; Diabetes mellitus, transient neonatal, 3; Type 2 diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.34
- CADD 22.80
- PolyPhen-2 0.02
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Diabetes mellitus, transient neonatal, 3; Type 2 d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)