K8* (p.Lys8Ter) variant of CACNB2 (Q08289)
K8* (p.Lys8Ter) in CACNB2 (Q08289) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
K8* (p.Lys8Ter) variant details
- p.Lys8Ter
- ExAC rs78722981
- gnomAD rs78722981
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.526
- CADD 37.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available