A32P (p.Ala32Pro) variant of CACNA1E (Q15878)
A32P (p.Ala32Pro) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A32P (p.Ala32Pro) variant details
- p.Ala32Pro
- rs904882375
- gnomAD 1-181413237-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- CADD 6.48
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available