A34V (p.Ala34Val) variant of KCNQ3 (O43525)
A34V (p.Ala34Val) 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 0.40 / 1. The record also includes population frequency data and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- rs1412895282
- ClinGen CA372292893
- ClinVar RCV002007721
- gnomAD rs1412895282
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.36
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available