G21V (p.Gly21Val) variant of CACNA1C (Q13936)
G21V (p.Gly21Val) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
G21V (p.Gly21Val) variant details
- p.Gly21Val
- gnomAD 12-2115236-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.33
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available