A56E (p.Ala56Glu) variant of KCNQ3 (O43525)
A56E (p.Ala56Glu) 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 0.59 / 1. The record also includes population frequency data and structural context.
A56E (p.Ala56Glu) variant details
- p.Ala56Glu
- rs2537398461
- ClinGen CA372292759
- ClinVar RCV003056410
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.64
- CADD 19.60
- PolyPhen-2 0.09
- SIFT 1.00
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available