H27Y (p.His27Tyr) variant of CACNA1C (Q13936)
H27Y (p.His27Tyr) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
H27Y (p.His27Tyr) variant details
- p.His27Tyr
- gnomAD 12-1971162-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- CADD 18.20
- Population evidence available
- Structural context available
- Literature evidence available