H20Y (p.His20Tyr) variant of CACNA1D (Q01668)
H20Y (p.His20Tyr) in CACNA1D (Q01668) is a missense 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.
H20Y (p.His20Tyr) variant details
- p.His20Tyr
- gnomAD 3-53495224-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.41
- MetaLR 0.73
- MetaSVM 0.47
- CADD 20.90
- PolyPhen-2 0.15
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available