A56V (p.Ala56Val) variant of KCNQ3 (O43525)
A56V (p.Ala56Val) 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 0.46 / 1. The record also includes population frequency data and structural context.
A56V (p.Ala56Val) variant details
- p.Ala56Val
- rs2537398461
- ClinGen CA372292758
- ClinVar RCV003749386
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.41
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.31
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available