A24E (p.Ala24Glu) variant of CACNA1D (Q01668)
A24E (p.Ala24Glu) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A24E (p.Ala24Glu) variant details
- p.Ala24Glu
- gnomAD 3-53497155-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.43
- MetaLR 0.78
- MetaSVM 0.42
- CADD 22.90
- PolyPhen-2 0.04
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available