S247W (p.Ser247Trp) variant of KCNQ2 (O43526)
S247W (p.Ser247Trp) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
S247W (p.Ser247Trp) variant details
- p.Ser247Trp
- rs74315392
- ClinGen CA130021
- ClinVar RCV000030664
- ClinVar RCV000678092
- Pathogenic
- Early-infantile DEE; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.02
- PolyPhen-2 0.63
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic (Early-infantile DEE; not provided)
- EBI: Pathogenic (in DEE7)
- UniProt: Pathogenic (in DEE7)
- Structural context available
- Cited in: Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth… (PMID 12742592)
- Cited in: A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. (PMID 15249611)