H27L (p.His27Leu) variant of CACNA1C (Q13936)
H27L (p.His27Leu) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
H27L (p.His27Leu) variant details
- p.His27Leu
- gnomAD 12-2115254-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.38
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 0.47
- Population evidence available
- Structural context available
- Literature evidence available