R743C (p.Arg743Cys) variant of CACNA2D2 (Q9NY47)
R743C (p.Arg743Cys) 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 0.47 / 1. The record also includes population frequency data and structural context.
R743C (p.Arg743Cys) variant details
- p.Arg743Cys
- rs2109411511
- ClinGen CA352915102
- NCI-TCGA Cosmic COSV5656
- cosmic curated COSV56561
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- AlphaMissense 0.50
- MetaLR 0.35
- MetaSVM -0.58
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.58
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available