A294V (p.Ala294Val) variant of KCNQ2 (O43526)
A294V (p.Ala294Val) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Early-infantile DEE; KCNQ2-Related Disorders; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
A294V (p.Ala294Val) variant details
- p.Ala294Val
- rs118192211
- ClinGen CA278571
- NCI-TCGA Cosmic COSV6043
- cosmic curated COSV60431
- Pathogenic
- Early-infantile DEE; KCNQ2-Related Disorders; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.11
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic (Early-infantile DEE; KCNQ2-Related Disorders; not provided)
- EBI: Pathogenic (in DEE7)
- UniProt: Pathogenic (in DEE7)
- Structural context available
- Cited in: Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative… (PMID 27864847)
- Cited in: Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth… (PMID 12742592)