Y127C (p.Tyr127Cys) variant of KCNQ2 (O43526)
Y127C (p.Tyr127Cys) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.60 / 1. The record also includes published literature and structural context.
Y127C (p.Tyr127Cys) variant details
- p.Tyr127Cys
- rs796052617
- ClinGen CA315353
- ClinVar RCV000187852
- ClinVar RCV002478657
- Pathogenic/Likely pathogenic
- Early-infantile DEE; Seizures, benign familial neonatal, 1; Developmental and ep
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- AlphaMissense 0.18
- MetaLR 0.81
- MetaSVM 0.49
- PolyPhen-2 0.99
- SIFT 0.50
- EVE 0.18
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; Seizures, benign familial neonatal, 1; Deve)
- EBI: Pathogenic
- UniProt: 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)