T274M (p.Thr274Met) variant of KCNQ2 (O43526)
T274M (p.Thr274Met) 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; West syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
T274M (p.Thr274Met) variant details
- p.Thr274Met
- rs727503974
- ClinGen CA278569
- NCI-TCGA Cosmic COSV6043
- cosmic curated COSV60435
- Pathogenic/Likely pathogenic
- Early-infantile DEE; West syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; West syndrome; not provided)
- 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)