E10K (p.Glu10Lys) variant of KCNJ11 (Q14654)
E10K (p.Glu10Lys) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Maturity-onset diabetes of the young. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
E10K (p.Glu10Lys) variant details
- p.Glu10Lys
- rs587783667
- ClinGen CA172324
- ClinVar RCV000146105
- ClinVar RCV002227073
- Conflicting interpretations
- not specified; Maturity-onset diabetes of the young
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.62
- AlphaMissense 0.24
- MetaLR 0.71
- MetaSVM 0.55
- CADD 27.90
- PolyPhen-2 0.74
- ClinVar: Conflicting classifications of pathogenicity (not specified; Maturity-onset diabetes of the young)
- EBI: Benign (in dbSNP:rs587783667)
- UniProt: Benign (in dbSNP:rs587783667)
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Sequence variants in the pancreatic islet beta-cell inwardly rectifying K+ channel Kir6.2 (Bir) gene: identification… (PMID 9032109)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)