M1V (p.Met1Val) variant of KCNQ2 (O43526)
M1V (p.Met1Val) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs118192185
- ClinGen CA342485
- ClinVar RCV000421973
- ClinVar RCV000678067
- Pathogenic/Likely pathogenic
- Early-infantile DEE; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.967
- MetaLR 0.96
- MetaSVM 1.14
- PolyPhen-2 0.92
- SIFT 0.00
- MutPred 1.00
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; not provided)
- 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)