R201H (p.Arg201His) variant of KCNQ2 (O43526)
R201H (p.Arg201His) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Early-infantile DEE; Developmental and epileptic encephalopathy, 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
R201H (p.Arg201His) variant details
- p.Arg201His
- rs1057516085
- ClinGen CA10654826
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10061
- Pathogenic
- not provided; Early-infantile DEE; Developmental and epileptic encephalopathy, 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic (not provided; Early-infantile DEE; Developmental and epileptic e)
- EBI: Pathogenic (in DEE7)
- UniProt: Pathogenic (in DEE7)
- Structural context available
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)