G30A (p.Gly30Ala) variant of KCNQ3 (O43525)
G30A (p.Gly30Ala) 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 0.59 / 1. The record also includes structural context.
G30A (p.Gly30Ala) variant details
- p.Gly30Ala
- rs1346206352
- ClinGen CA372292915
- ClinVar RCV002013808
- Ensembl rs1346206352
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- AlphaMissense 0.08
- MetaLR 0.80
- MetaSVM 0.14
- PolyPhen-2 0.14
- SIFT 0.69
- MutPred 0.17
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available