H27Q (p.His27Gln) variant of CACNA1C (Q13936)
H27Q (p.His27Gln) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
H27Q (p.His27Gln) variant details
- p.His27Gln
- rs752278726
- gnomAD 12-2115255-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.40
- CADD 6.95
- PolyPhen-2 0.35
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available