R210P (p.Arg210Pro) variant of KCNQ2 (O43526)
R210P (p.Arg210Pro) 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; Developmental and epileptic encephalopathy, 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
R210P (p.Arg210Pro) variant details
- p.Arg210Pro
- rs886041262
- ClinGen CA10603678
- ClinVar RCV000378190
- ClinVar RCV000454413
- Pathogenic/Likely pathogenic
- Early-infantile DEE; not provided; Developmental and epileptic encephalopathy, 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 0.92
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; not provided; Developmental and epileptic e)
- EBI: Pathogenic (in DEE7)
- UniProt: Pathogenic (in DEE7)
- Structural context available
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)