W45* (p.Trp45Ter) variant of CACNA2D2 (Q9NY47)
W45* (p.Trp45Ter) in CACNA2D2 (Q9NY47) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
W45* (p.Trp45Ter) variant details
- p.Trp45Ter
- rs2471323674
- ClinGen CA353000308
- ClinVar RCV003338166
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.509
- CADD 34.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available