E4D (p.Glu4Asp) variant of CACNA1C (Q13936)
E4D (p.Glu4Asp) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E4D (p.Glu4Asp) variant details
- p.Glu4Asp
- rs2052987294
- gnomAD 12-2053574-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.32
- CADD 20.10
- PolyPhen-2 0.95
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available