D62E (p.Asp62Glu) variant of KCNQ3 (O43525)
D62E (p.Asp62Glu) 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 0.42 / 1. The record also includes population frequency data and structural context.
D62E (p.Asp62Glu) variant details
- p.Asp62Glu
- rs2537398396
- ClinGen CA372292724
- ClinVar RCV003587144
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.31
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available