S352W (p.Ser352Trp) variant of KCNQ2 (O43526)
S352W (p.Ser352Trp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
S352W (p.Ser352Trp) variant details
- p.Ser352Trp
- rs1307396168
- ClinVar RCV004586478
- gnomAD rs1307396168
- Likely pathogenic
- Seizures, benign familial neonatal, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.67
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Seizures, benign familial neonatal, 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)