A206E (p.Ala206Glu) variant of CACNA2D2 (Q9NY47)
A206E (p.Ala206Glu) in CACNA2D2 (Q9NY47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes structural context.
A206E (p.Ala206Glu) variant details
- p.Ala206Glu
- rs770272736
- ClinGen CA352943955
- ClinVar RCV006558821
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- AlphaMissense 0.37
- MetaLR 0.02
- MetaSVM -1.05
- PolyPhen-2 0.89
- SIFT 0.00
- MutPred 0.88
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available