G268R (p.Gly268Arg) variant of KCNQ3 (O43525)
G268R (p.Gly268Arg) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Benign neonatal seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
G268R (p.Gly268Arg) variant details
- p.Gly268Arg
- rs1282879239
- ClinGen CA372290578
- NCI-TCGA Cosmic COSV6646
- ClinVar RCV001867178
- Pathogenic
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.43
- ClinVar: Pathogenic (Benign neonatal seizures)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available