E13V (p.Glu13Val) variant of CACNA1C (Q13936)
E13V (p.Glu13Val) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
E13V (p.Glu13Val) variant details
- p.Glu13Val
- rs1402296901
- gnomAD 12-1971136-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- CADD 25.10
- Population evidence available
- Structural context available
- Literature evidence available