E37A (p.Glu37Ala) variant of CACNA1D (Q01668)
E37A (p.Glu37Ala) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E37A (p.Glu37Ala) variant details
- p.Glu37Ala
- rs1553691065
- gnomAD 3-53329412-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- CADD 23.50
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available