T6E (p.Thr6Glu) variant of CACNA1C (Q13936)
T6E (p.Thr6Glu) in CACNA1C (Q13936) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
T6E (p.Thr6Glu) variant details
- p.Thr6Glu
- rs786205782
- gnomAD 12-2053575-AAT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.424
- CADD 27.00
- Population evidence available
- Structural context available
- Literature evidence available