L46P (p.Leu46Pro) variant of ALPL (P05186)
L46P (p.Leu46Pro) in ALPL (P05186) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
L46P (p.Leu46Pro) variant details
- p.Leu46Pro
- gnomAD 1-21560701-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.70
- CADD 24.10
- PolyPhen-2 0.97
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available