R353C (p.Arg353Cys) variant of KCNQ2 (O43526)
R353C (p.Arg353Cys) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Early-infantile DEE; not provided; Seizures, benign familial neonatal, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
R353C (p.Arg353Cys) variant details
- p.Arg353Cys
- rs118192218
- ClinGen CA315430
- ClinVar RCV000187895
- ClinVar RCV003223393
- Pathogenic/Likely pathogenic
- Early-infantile DEE; not provided; Seizures, benign familial neonatal, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; not provided; Seizures, benign familial neo)
- EBI: Pathogenic (in BFNS1)
- UniProt: Pathogenic (in BFNS1)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)