A29V (p.Ala29Val) variant of KCNQ3 (O43525)
A29V (p.Ala29Val) 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 0.39 / 1. The record also includes population frequency data and structural context.
A29V (p.Ala29Val) variant details
- p.Ala29Val
- rs1227699672
- ClinGen CA372292920
- ClinVar RCV002047564
- TOPMed rs1227699672
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.31
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available