I55L (p.Ile55Leu) variant of ALPL (P05186)
I55L (p.Ile55Leu) in ALPL (P05186) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
I55L (p.Ile55Leu) variant details
- p.Ile55Leu
- gnomAD 1-21560727-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.79
- CADD 24.60
- PolyPhen-2 0.73
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available