P23S (p.Pro23Ser) variant of CACNA1C (Q13936)
P23S (p.Pro23Ser) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
P23S (p.Pro23Ser) variant details
- p.Pro23Ser
- rs2083383206
- gnomAD 12-2115241-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.57
- CADD 22.80
- PolyPhen-2 0.99
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available