A1612G (p.Ala1612Gly) variant of SCN2A (Nav1.2)
A1612G (p.Ala1612Gly) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Benign familial infantile epilepsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes structural context.
A1612G (p.Ala1612Gly) variant details
- p.Ala1612Gly
- rs2105402019
- ClinGen CA349037532
- ClinVar RCV001847373
- Ensembl rs2105402019
- Pathogenic
- Benign familial infantile epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- ESM-1b 1.00
- AlphaMissense 0.43
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Benign familial infantile epilepsy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available