L292P (p.Leu292Pro) variant of KCNQ2 (O43526)
L292P (p.Leu292Pro) 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; Developmental and epileptic encephalopathy, 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
L292P (p.Leu292Pro) variant details
- p.Leu292Pro
- rs1060500602
- ClinGen CA16616483
- ClinVar RCV000853366
- ClinVar RCV003315345
- Pathogenic/Likely pathogenic
- Early-infantile DEE; Developmental and epileptic encephalopathy, 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.13
- PolyPhen-2 0.12
- SIFT 0.00
- EVE 0.67
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; Developmental and epileptic encephalopathy,)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)