R862C (p.Arg862Cys) variant of CACNA2D2 (Q9NY47)
R862C (p.Arg862Cys) 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 0.42 / 1. The record also includes population frequency data and structural context.
R862C (p.Arg862Cys) variant details
- p.Arg862Cys
- rs1302325175
- ClinGen CA352910509
- ClinVar RCV002599528
- gnomAD rs1302325175
- Uncertain significance
- Developmental and epileptic encephalopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- AlphaMissense 0.40
- MetaLR 0.26
- MetaSVM -0.88
- PolyPhen-2 0.15
- SIFT 0.29
- MutPred 0.49
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available