V251A (p.Val251Ala) variant of SCN2A (Nav1.2)
V251A (p.Val251Ala) 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 0.98 / 1. The record also includes structural context.
V251A (p.Val251Ala) variant details
- p.Val251Ala
- rs2105247262
- ClinGen CA349017949
- NCI-TCGA Cosmic COSV5184
- cosmic curated COSV51841
- Pathogenic
- Benign familial infantile epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.983
- ESM-1b 1.00
- AlphaMissense 0.96
- ClinVar: Pathogenic (Benign familial infantile epilepsy)
- EBI: Pathogenic (in DEE11)
- UniProt: Pathogenic (in DEE11)
- Structural context available