S195C (p.Ser195Cys) variant of KCNQ2 (O43526)
S195C (p.Ser195Cys) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Developmental and epileptic encephalopathy, 7; Seizures, benign familial neonata. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
S195C (p.Ser195Cys) variant details
- p.Ser195Cys
- rs1568940442
- ClinGen CA409654833
- ClinVar RCV001262250
- ClinVar RCV001786460
- Likely pathogenic
- Developmental and epileptic encephalopathy, 7; Seizures, benign familial neonata
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 7; Seizures, benign)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)