R547G (p.Arg547Gly) variant of KCNQ2 (O43526)
R547G (p.Arg547Gly) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Seizures, benign familial neonatal, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R547G (p.Arg547Gly) variant details
- p.Arg547Gly
- rs796052650
- ClinGen CA10576253
- ClinVar RCV000211481
- Ensembl rs796052650
- Likely pathogenic
- Seizures, benign familial neonatal, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.78
- CADD 22.60
- PolyPhen-2 0.75
- SIFT 0.00
- ClinVar: Likely pathogenic (Seizures, benign familial neonatal, 1)
- EBI: Pathogenic (in BFNS1)
- UniProt: Pathogenic (in BFNS1)
- Population evidence available
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)