R17W (p.Arg17Trp) variant of CACNA2D2 (Q9NY47)
R17W (p.Arg17Trp) in CACNA2D2 (Q9NY47) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy. The record also includes variant effect predictions and structural context.
R17W (p.Arg17Trp) variant details
- p.Arg17Trp
- NCI-TCGA TCGA novel
- Uncertain significance
- Developmental and epileptic encephalopathy
- Missense
- MetaLR 0.01
- MetaSVM -0.94
- SIFT 0.02
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy)
- UniProt: Uncertain significance
- Structural context available