H20H (p.His20His) variant of CACNA1D (Q01668)
H20H (p.His20His) in CACNA1D (Q01668) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
H20H (p.His20His) variant details
- p.His20His
- rs201981216
- gnomAD 3-53495226-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.498
- CADD 14.00
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- Literature evidence available