S18F (p.Ser18Phe) variant of CACNA1C (Q13936)
S18F (p.Ser18Phe) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
S18F (p.Ser18Phe) variant details
- p.Ser18Phe
- rs1216229121
- gnomAD 12-2115227-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.51
- CADD 25.30
- PolyPhen-2 0.24
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available