F5L (p.Phe5Leu) variant of ALPL (P05186)
F5L (p.Phe5Leu) in ALPL (P05186) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
F5L (p.Phe5Leu) variant details
- p.Phe5Leu
- gnomAD 1-21554096-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.23
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.51
- Population evidence available
- Structural context available
- Literature evidence available