T6Y (p.Thr6Tyr) variant of CACNA1C (Q13936)
T6Y (p.Thr6Tyr) in CACNA1C (Q13936) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
T6Y (p.Thr6Tyr) variant details
- p.Thr6Tyr
- gnomAD 12-1971088-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.355
- CADD 18.80
- Population evidence available
- Structural context available
- Literature evidence available