A18E (p.Ala18Glu) variant of CACNA1D (Q01668)
A18E (p.Ala18Glu) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A18E (p.Ala18Glu) variant details
- p.Ala18Glu
- gnomAD 3-53495219-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.28
- MetaLR 0.64
- MetaSVM -0.46
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available