C33* (p.Cys33Ter) variant of CACNA1S (Q13698)
C33* (p.Cys33Ter) in CACNA1S (Q13698) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
C33* (p.Cys33Ter) variant details
- p.Cys33Ter
- ESP rs377020349
- gnomAD rs377020349
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.453
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available