R207Q (p.Arg207Gln) variant of KCNQ2 (O43526)
R207Q (p.Arg207Gln) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Paediatric disorders; Early-infantile DEE; Developmental and epileptic encephalo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R207Q (p.Arg207Gln) variant details
- p.Arg207Gln
- rs118192200
- ClinGen CA118745
- NCI-TCGA Cosmic COSV6043
- cosmic curated COSV60431
- Pathogenic
- Paediatric disorders; Early-infantile DEE; Developmental and epileptic encephalo
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.94
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Paediatric disorders; Early-infantile DEE; Developmental and epi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Cited in: Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations. (PMID 17872363)
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)