Q22* (p.Gln22Ter) variant of CACNB2 (Q08289)
Q22* (p.Gln22Ter) in CACNB2 (Q08289) is a protein-truncating change. 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.
Q22* (p.Gln22Ter) variant details
- p.Gln22Ter
- gnomAD rs1328545245
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.506
- CADD 37.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available