Q52H (p.Gln52His) variant of KCNQ3 (O43525)
Q52H (p.Gln52His) 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 0.38 / 1. The record also includes population frequency data and structural context.
Q52H (p.Gln52His) variant details
- p.Gln52His
- rs2537398473
- ClinGen CA372292782
- ClinVar RCV002791753
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.32
- CADD 23.80
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available