R547W (p.Arg547Trp) variant of KCNQ2 (O43526)
R547W (p.Arg547Trp) 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; not provided; Seizures, benign familial neonatal, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R547W (p.Arg547Trp) variant details
- p.Arg547Trp
- rs796052650
- ClinGen CA315462
- NCI-TCGA Cosmic COSV6055
- cosmic curated COSV60557
- Pathogenic/Likely pathogenic
- Early-infantile DEE; not provided; Seizures, benign familial neonatal, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.79
- CADD 23.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; not provided; Seizures, benign familial neo)
- EBI: Pathogenic (in BFNS1)
- UniProt: Pathogenic (in BFNS1)
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Cited in: Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. (PMID 23360469)
- Cited in: Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor. (PMID 11175290)