L46F (p.Leu46Phe) variant of ALPL (P05186)
L46F (p.Leu46Phe) in ALPL (P05186) 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.
L46F (p.Leu46Phe) variant details
- p.Leu46Phe
- gnomAD 1-21560700-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.45
- CADD 20.20
- PolyPhen-2 0.17
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available