A46V (p.Ala46Val) variant of KCNQ3 (O43525)
A46V (p.Ala46Val) 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 0.42 / 1. The record also includes population frequency data and structural context.
A46V (p.Ala46Val) variant details
- p.Ala46Val
- rs1452782861
- ClinGen CA372292822
- ClinVar RCV002795503
- TOPMed rs1452782861
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.34
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.52
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available