Q54Q (p.Gln54Gln) variant of CACNA1D (Q01668)
Q54Q (p.Gln54Gln) in CACNA1D (Q01668) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Q54Q (p.Gln54Gln) variant details
- p.Gln54Gln
- rs769218354
- gnomAD 3-53497246-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.334
- CADD 10.90
- Population evidence available
- Structural context available
- Literature evidence available