D19Y (p.Asp19Tyr) variant of CACNA1D (Q01668)
D19Y (p.Asp19Tyr) 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.
D19Y (p.Asp19Tyr) variant details
- p.Asp19Tyr
- gnomAD 3-53495221-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.45
- MetaLR 0.74
- MetaSVM 0.57
- CADD 24.20
- PolyPhen-2 0.19
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available