P4L (p.Pro4Leu) variant of ALPL (P05186)
P4L (p.Pro4Leu) 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.
P4L (p.Pro4Leu) variant details
- p.Pro4Leu
- gnomAD 1-21554092-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.24
- CADD 13.80
- Population evidence available
- Structural context available
- Literature evidence available