E117D (p.Glu117Asp) variant of KCNQ2 (O43526)
E117D (p.Glu117Asp) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E117D (p.Glu117Asp) variant details
- p.Glu117Asp
- rs1215026765
- ClinGen CA409656417
- ClinVar RCV005635340
- ClinVar RCV006610768
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.26
- CADD 16.90
- PolyPhen-2 0.04
- SIFT 0.05
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)