A294S (p.Ala294Ser) variant of KCNQ2 (O43526)
A294S (p.Ala294Ser) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopath. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes structural context.
A294S (p.Ala294Ser) variant details
- p.Ala294Ser
- rs2081099858
- ClinGen CA409652583
- ClinVar RCV006466279
- Ensembl rs2081099858
- Likely pathogenic
- Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopath
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- AlphaMissense 0.51
- MetaLR 0.94
- MetaSVM 1.06
- PolyPhen-2 0.95
- SIFT 0.15
- EVE 0.17
- ClinVar: Likely pathogenic (Seizures, benign familial neonatal, 1; Developmental and epilept)
- EBI: Likely pathogenic (in DEE7)
- UniProt: Likely pathogenic (in DEE7)
- Structural context available