T6R (p.Thr6Arg) variant of CACNA1C (Q13936)
T6R (p.Thr6Arg) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
T6R (p.Thr6Arg) variant details
- p.Thr6Arg
- rs1200454267
- gnomAD 12-1971091-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- CADD 11.50
- Population evidence available
- Structural context available
- Literature evidence available