G271R (p.Gly271Arg) variant of KCNQ2 (O43526)
G271R (p.Gly271Arg) 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 0.91 / 1. The record also includes published literature and structural context.
G271R (p.Gly271Arg) variant details
- p.Gly271Arg
- rs1064797284
- ClinGen CA16621790
- ClinVar RCV000488201
- ClinVar RCV006261746
- Pathogenic/Likely pathogenic
- Early-infantile DEE; not provided; Developmental and epileptic encephalopathy, 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 0.92
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; not provided; Developmental and epileptic e)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)