D38E (p.Asp38Glu) variant of KCNQ3 (O43525)
D38E (p.Asp38Glu) 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 0.33 / 1. The record also includes population frequency data and structural context.
D38E (p.Asp38Glu) variant details
- p.Asp38Glu
- rs1477607835
- ClinGen CA372292869
- ClinVar RCV001349583
- gnomAD rs1477607835
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.28
- CADD 14.80
- PolyPhen-2 0.01
- SIFT 0.95
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available