R207W (p.Arg207Trp) variant of KCNQ2 (O43526)
R207W (p.Arg207Trp) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Early-infantile DEE; Inborn genetic diseases; Seizures, benign familial neonatal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R207W (p.Arg207Trp) variant details
- p.Arg207Trp
- rs74315391
- ClinGen CA118744
- ClinVar RCV000007811
- ClinVar RCV000187862
- Pathogenic
- Early-infantile DEE; Inborn genetic diseases; Seizures, benign familial neonatal
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.94
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Early-infantile DEE; Inborn genetic diseases; Seizures, benign f)
- EBI: Pathogenic (in BFNS1)
- UniProt: Pathogenic (in BFNS1)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel. (PMID 11572947)
- Cited in: Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations. (PMID 17872363)