A27E (p.Ala27Glu) variant of CACNA1D (Q01668)
A27E (p.Ala27Glu) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A27E (p.Ala27Glu) variant details
- p.Ala27Glu
- gnomAD 3-53329409-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- CADD 16.50
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available