G574S (p.Gly574Ser) variant of KCNQ2 (O43526)
G574S (p.Gly574Ser) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Early-infantile DEE; Developmental and epileptic encephalopathy, 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G574S (p.Gly574Ser) variant details
- p.Gly574Ser
- rs2080187424
- ClinGen CA409643553
- NCI-TCGA Cosmic COSV6054
- cosmic curated COSV60549
- Pathogenic/Likely pathogenic
- not provided; Early-infantile DEE; Developmental and epileptic encephalopathy, 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.93
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Early-infantile DEE; Developmental and epileptic e)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)