A64S (p.Ala64Ser) variant of KCNQ2 (O43526)
A64S (p.Ala64Ser) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Early-infantile DEE; Seizures, benign familial neonatal, 1; Developmental and ep. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A64S (p.Ala64Ser) variant details
- p.Ala64Ser
- rs780110473
- ClinGen CA315339
- ClinVar RCV000187846
- ClinVar RCV005396562
- Conflicting interpretations
- Early-infantile DEE; Seizures, benign familial neonatal, 1; Developmental and ep
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.34
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.63
- ClinVar: Conflicting classifications of pathogenicity (Early-infantile DEE; Seizures, benign familial neonatal, 1; Deve)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:IBS population (allele frequency 0.017)
- 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)