R214W (p.Arg214Trp) variant of KCNQ2 (O43526)
R214W (p.Arg214Trp) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Neonatal/infantile epilepsy syndrome; Early-infantile DEE; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R214W (p.Arg214Trp) variant details
- p.Arg214Trp
- rs28939684
- ClinGen CA245495
- ClinVar RCV000007810
- ClinVar RCV000790713
- Pathogenic/Likely pathogenic
- Neonatal/infantile epilepsy syndrome; Early-infantile DEE; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.84
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Neonatal/infantile epilepsy syndrome; Early-infantile DEE; not p)
- EBI: Pathogenic (in BFNS1)
- UniProt: Pathogenic (in BFNS1)
- Population evidence available
- Structural context available
- Cited in: Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor. (PMID 11175290)
- Cited in: Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel. (PMID 11572947)