A30P (p.Ala30Pro) variant of CACNA1S (Q13698)
A30P (p.Ala30Pro) in CACNA1S (Q13698) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A30P (p.Ala30Pro) variant details
- p.Ala30Pro
- gnomAD rs1663151908
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.32
- CADD 24.30
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available