A18A (p.Ala18Ala) variant of CACNA1D (Q01668)
A18A (p.Ala18Ala) in CACNA1D (Q01668) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
A18A (p.Ala18Ala) variant details
- p.Ala18Ala
- gnomAD 3-53495220-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.559
- CADD 14.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available