M1L (p.Met1Leu) variant of KCNQ2 (O43526)
M1L (p.Met1Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs118192185
- ClinGen CA409636359
- ClinVar RCV006563453
- Pathogenic
- Early-infantile DEE
- 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 (Early-infantile DEE)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available