R553P (p.Arg553Pro) variant of KCNQ2 (O43526)
R553P (p.Arg553Pro) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Early-infantile DEE; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
R553P (p.Arg553Pro) variant details
- p.Arg553Pro
- rs118192234
- ClinGen CA409643977
- ClinVar RCV000678816
- Ensembl rs118192234
- Conflicting interpretations
- Early-infantile DEE; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- AlphaMissense 0.66
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Conflicting classifications of pathogenicity (Early-infantile DEE; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)