A26S (p.Ala26Ser) variant of CACNA1C (Q13936)
A26S (p.Ala26Ser) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A26S (p.Ala26Ser) variant details
- p.Ala26Ser
- gnomAD 12-2115250-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.46
- CADD 21.90
- PolyPhen-2 0.16
- SIFT 0.39
- Population evidence available
- Structural context available
- Literature evidence available