T6A (p.Thr6Ala) variant of CACNA1C (Q13936)
T6A (p.Thr6Ala) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
T6A (p.Thr6Ala) variant details
- p.Thr6Ala
- gnomAD 12-1971090-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- CADD 9.43
- Population evidence available
- Structural context available
- Literature evidence available