E130K (p.Glu130Lys) variant of KCNQ2 (O43526)
E130K (p.Glu130Lys) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Developmental and epileptic encephalopathy, 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
E130K (p.Glu130Lys) variant details
- p.Glu130Lys
- rs864321710
- ClinGen CA347950
- ClinVar RCV000203592
- ClinVar RCV003315334
- Pathogenic
- Developmental and epileptic encephalopathy, 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.74
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy, 7)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)