D55A (p.Asp55Ala) variant of SCN2A (Q99250)
D55A (p.Asp55Ala) in SCN2A (Q99250) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Epileptic encephalopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
D55A (p.Asp55Ala) variant details
- p.Asp55Ala
- rs1574525321
- ClinGen CA349010265
- ClinVar RCV001027536
- Ensembl rs1574525321
- Likely pathogenic
- Epileptic encephalopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.951
- ESM-1b 1.00
- AlphaMissense 0.89
- ClinVar: Likely pathogenic (Epileptic encephalopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available