M1T (p.Met1Thr) variant of KCNQ2 (O43526)
M1T (p.Met1Thr) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Developmental and epileptic encephalopathy, 7; Early-infantile DEE; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs118192186
- ClinGen CA342499
- ClinVar RCV000678074
- ClinVar RCV004696638
- Pathogenic/Likely pathogenic
- Developmental and epileptic encephalopathy, 7; Early-infantile DEE; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.978
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.99
- ClinVar: Pathogenic/Likely pathogenic (Developmental and epileptic encephalopathy, 7; Early-infantile D)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)