V30I (p.Val30Ile) variant of CACNA1E (Q15878)
V30I (p.Val30Ile) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
V30I (p.Val30Ile) variant details
- p.Val30Ile
- rs1270306626
- gnomAD 1-181413258-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- CADD 13.30
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available