V50V (p.Val50Val) variant of CACNA1D (Q01668)
V50V (p.Val50Val) in CACNA1D (Q01668) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
V50V (p.Val50Val) variant details
- p.Val50Val
- rs1282404129
- gnomAD 3-53497234-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.547
- CADD 10.70
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available