A28S (p.Ala28Ser) variant of CACNA1C (Q13936)
A28S (p.Ala28Ser) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A28S (p.Ala28Ser) variant details
- p.Ala28Ser
- gnomAD 12-2115256-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.44
- CADD 21.40
- PolyPhen-2 0.09
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available