R198Q (p.Arg198Gln) variant of KCNQ2 (O43526)
R198Q (p.Arg198Gln) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; Early-infantile DEE; Seizures, benign familial neonatal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
R198Q (p.Arg198Gln) variant details
- p.Arg198Gln
- rs796052621
- ClinGen CA315361
- NCI-TCGA Cosmic COSV6043
- cosmic curated COSV60437
- Pathogenic
- Inborn genetic diseases; Early-infantile DEE; Seizures, benign familial neonatal
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic (Inborn genetic diseases; Early-infantile DEE; Seizures, benign f)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)