T12M (p.Thr12Met) variant of ALPL (P05186)
T12M (p.Thr12Met) in ALPL (P05186) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
T12M (p.Thr12Met) variant details
- p.Thr12Met
- rs539884496
- gnomAD 1-21560711-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0848
- CADD 0.59
- Population evidence available
- Structural context available
- Literature evidence available