E2D (p.Glu2Asp) variant of SCN1A (P35498)
E2D (p.Glu2Asp) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes structural context.
E2D (p.Glu2Asp) variant details
- p.Glu2Asp
- rs771003075
- ClinGen CA349243508
- ClinVar RCV001806592
- ExAC rs771003075
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- AlphaMissense 0.15
- MetaLR 0.79
- MetaSVM 0.56
- PolyPhen-2 0.25
- SIFT 0.01
- MutPred 0.17
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available