A27S (p.Ala27Ser) variant of CACNA1D (Q01668)
A27S (p.Ala27Ser) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A27S (p.Ala27Ser) variant details
- p.Ala27Ser
- gnomAD 3-53329408-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- CADD 18.30
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available