E11K (p.Glu11Lys) variant of KCNA2 (P16389)
E11K (p.Glu11Lys) in KCNA2 (P16389) is a missense change. Clinical records from ClinVar 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 0.64 / 1. The record also includes population frequency data and structural context.
E11K (p.Glu11Lys) variant details
- p.Glu11Lys
- cosmic curated COSV60369
- ExAC rs752100849
- TOPMed rs752100849
- Uncertain significance
- Developmental and epileptic encephalopathy, 32
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.56
- CADD 22.80
- PolyPhen-2 0.32
- SIFT 0.05
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 32)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-06)
- Structural context available