R14R (p.Arg14Arg) variant of CACNA1D (Q01668)
R14R (p.Arg14Arg) 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.
R14R (p.Arg14Arg) variant details
- p.Arg14Arg
- rs1161880837
- gnomAD 3-53495208-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.558
- CADD 14.60
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available