G24W (p.Gly24Trp) variant of KCNQ3 (O43525)
G24W (p.Gly24Trp) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Benign neonatal seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
G24W (p.Gly24Trp) variant details
- p.Gly24Trp
- rs1822526218
- ClinGen CA372292954
- ClinVar RCV003749253
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.50
- CADD 25.00
- PolyPhen-2 0.87
- SIFT 0.13
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available