A306T (p.Ala306Thr) variant of KCNQ3 (O43525)
A306T (p.Ala306Thr) 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 0.82 / 1. The record also includes structural context.
A306T (p.Ala306Thr) variant details
- p.Ala306Thr
- rs1586801127
- ClinGen CA372290327
- ClinVar RCV000816648
- Ensembl rs1586801127
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- AlphaMissense 0.96
- MetaLR 0.97
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.34
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available