S18Y (p.Ser18Tyr) variant of CACNA1C (Q13936)
S18Y (p.Ser18Tyr) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
S18Y (p.Ser18Tyr) variant details
- p.Ser18Tyr
- gnomAD 12-2115227-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.54
- CADD 23.60
- PolyPhen-2 0.32
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available