S18P (p.Ser18Pro) variant of CACNA1C (Q13936)
S18P (p.Ser18Pro) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S18P (p.Ser18Pro) variant details
- p.Ser18Pro
- gnomAD 12-2115226-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.29
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available