A306P (p.Ala306Pro) variant of KCNQ2 (O43526)
A306P (p.Ala306Pro) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.92 / 1. The record also includes published literature and structural context.
A306P (p.Ala306Pro) variant details
- p.Ala306Pro
- rs74315390
- ClinGen CA315410
- ClinVar RCV000187885
- ClinVar RCV003315319
- Pathogenic
- Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopath
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic (Seizures, benign familial neonatal, 1; Developmental and epilept)
- EBI: Pathogenic (in BFNS1 and DEE7)
- UniProt: Pathogenic (in BFNS1 and DEE7)
- Structural context available
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)