W53L (p.Trp53Leu) variant of CACNA1D (Q01668)
W53L (p.Trp53Leu) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
W53L (p.Trp53Leu) variant details
- p.Trp53Leu
- ExAC rs763383320
- gnomAD rs763383320
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.73
- MetaLR 0.88
- MetaSVM 0.96
- CADD 29.50
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available