G15D (p.Gly15Asp) variant of KCNQ3 (O43525)
G15D (p.Gly15Asp) 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 0.47 / 1. The record also includes population frequency data and structural context.
G15D (p.Gly15Asp) variant details
- p.Gly15Asp
- rs2537398956
- ClinGen CA372293008
- ClinVar RCV003749876
- NCI-TCGA TCGA novel
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.46
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available