P23Q (p.Pro23Gln) variant of CACNA1C (Q13936)
P23Q (p.Pro23Gln) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
P23Q (p.Pro23Gln) variant details
- p.Pro23Gln
- rs867642983
- gnomAD 12-2115242-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.65
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available