T6K (p.Thr6Lys) variant of CACNA1C (Q13936)
T6K (p.Thr6Lys) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
T6K (p.Thr6Lys) variant details
- p.Thr6Lys
- rs565973402
- gnomAD 12-1971133-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- CADD 17.30
- Population evidence available
- Structural context available
- Literature evidence available