G84V (p.Gly84Val) variant of KCNQ3 (O43525)
G84V (p.Gly84Val) 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 0.52 / 1. The record also includes population frequency data and structural context.
G84V (p.Gly84Val) variant details
- p.Gly84Val
- rs781753428
- ClinGen CA372292595
- ClinVar RCV001313926
- ExAC rs781753428
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.47
- CADD 22.80
- PolyPhen-2 0.05
- SIFT 0.05
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00019)
- Structural context available