K23E (p.Lys23Glu) variant of KCNJ11 (Q14654)
K23E (p.Lys23Glu) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Diabetes mellitus, transient neonatal, 3; Type 2 diabetes mellitus; Maturity-ons. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
K23E (p.Lys23Glu) variant details
- p.Lys23Glu
- rs5219
- ClinGen CA119831
- ClinVar RCV000009214
- ClinVar RCV000020356
- Likely benign
- Diabetes mellitus, transient neonatal, 3; Type 2 diabetes mellitus; Maturity-ons
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.17
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Likely benign (Diabetes mellitus, transient neonatal, 3; Type 2 diabetes mellit)
- EBI: Benign (in dbSNP:rs5219)
- UniProt: Benign (in dbSNP:rs5219)
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 1)
- Structural context available
- Cited in: Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. (PMID 10391210)
- Cited in: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID 15489334)