K21E (p.Lys21Glu) variant of KCNQ2 (O43526)
K21E (p.Lys21Glu) 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 0.45 / 1. The record also includes population frequency data and structural context.
K21E (p.Lys21Glu) variant details
- p.Lys21Glu
- rs2145922229
- ClinGen CA409636003
- ClinVar RCV006466667
- Ensembl rs2145922229
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.44
- CADD 23.00
- PolyPhen-2 0.10
- SIFT 0.15
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available