G310D (p.Gly310Asp) variant of KCNQ3 (O43525)
G310D (p.Gly310Asp) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Benign neonatal seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
G310D (p.Gly310Asp) variant details
- p.Gly310Asp
- rs118192250
- ClinGen CA372290298
- ClinVar RCV001378393
- Ensembl rs118192250
- Likely pathogenic
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Likely pathogenic (Benign neonatal seizures)
- EBI: Pathogenic (in BFNS2)
- UniProt: Pathogenic (in BFNS2)
- Structural context available