E17D (p.Glu17Asp) variant of KCNQ2 (O43526)
E17D (p.Glu17Asp) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E17D (p.Glu17Asp) variant details
- p.Glu17Asp
- rs2082239531
- ClinGen CA409636073
- ClinVar RCV001330503
- Ensembl rs2082239531
- Uncertain significance
- Developmental and epileptic encephalopathy, 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.35
- CADD 18.90
- PolyPhen-2 0.07
- SIFT 0.31
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)