P11A (p.Pro11Ala) variant of CACNA1C (Q13936)
P11A (p.Pro11Ala) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
P11A (p.Pro11Ala) variant details
- p.Pro11Ala
- rs1455054083
- gnomAD 12-2053593-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.41
- CADD 23.50
- PolyPhen-2 0.98
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available