E882K (p.Glu882Lys) variant of CACNA2D2 (Q9NY47)
E882K (p.Glu882Lys) in CACNA2D2 (Q9NY47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E882K (p.Glu882Lys) variant details
- p.Glu882Lys
- rs140562117
- ClinGen CA2418423
- cosmic curated COSV56563
- ClinVar RCV001344977
- Uncertain significance
- Developmental and epileptic encephalopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- AlphaMissense 0.47
- MetaLR 0.28
- MetaSVM -0.69
- PolyPhen-2 0.09
- SIFT 0.31
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available