E4V (p.Glu4Val) variant of CACNA1C (Q13936)
E4V (p.Glu4Val) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
E4V (p.Glu4Val) variant details
- p.Glu4Val
- gnomAD 12-2053573-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.45
- CADD 24.60
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available