E56Q (p.Glu56Gln) variant of KCNA2 (P16389)
E56Q (p.Glu56Gln) in KCNA2 (P16389) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 32. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
E56Q (p.Glu56Gln) variant details
- p.Glu56Gln
- rs1039144241
- ClinGen CA28809250
- ClinVar RCV003753413
- TOPMed rs1039144241
- Uncertain significance
- Developmental and epileptic encephalopathy, 32
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.40
- CADD 23.50
- PolyPhen-2 0.32
- SIFT 0.01
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 32)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available