G89* (p.Gly89Ter) variant of CACNA2D2 (Q9NY47)
G89* (p.Gly89Ter) in CACNA2D2 (Q9NY47) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
G89* (p.Gly89Ter) variant details
- p.Gly89Ter
- rs1553753355
- NCI-TCGA Cosmic COSV9981
- cosmic curated COSV99817
- Ensembl rs1553753355
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.754
- CADD 37.00
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available