V2F (p.Val2Phe) variant of CACNA1C (Q13936)
V2F (p.Val2Phe) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
V2F (p.Val2Phe) variant details
- p.Val2Phe
- gnomAD 12-2053566-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.40
- CADD 27.90
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available