G9D (p.Gly9Asp) variant of KCNQ2 (O43526)
G9D (p.Gly9Asp) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Developmental and epileptic encephalopathy, 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
G9D (p.Gly9Asp) variant details
- p.Gly9Asp
- rs1392647178
- ClinGen CA409636244
- ClinVar RCV000681500
- TOPMed rs1392647178
- Likely pathogenic
- Developmental and epileptic encephalopathy, 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.71
- CADD 25.20
- PolyPhen-2 0.66
- SIFT 0.02
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 7)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)