S247L (p.Ser247Leu) variant of KCNQ2 (O43526)
S247L (p.Ser247Leu) 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; Inborn genetic diseases; Developmental and epileptic enceph. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
S247L (p.Ser247Leu) variant details
- p.Ser247Leu
- rs74315392
- ClinGen CA315383
- NCI-TCGA Cosmic COSV6043
- cosmic curated COSV60436
- Pathogenic/Likely pathogenic
- Early-infantile DEE; Inborn genetic diseases; Developmental and epileptic enceph
- 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/Likely pathogenic (Early-infantile DEE; Inborn genetic diseases; Developmental and)
- EBI: Pathogenic (in DEE7)
- UniProt: Pathogenic (in DEE7)
- Structural context available
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)