L73del (p.Leu73del) variant of ALPL (P05186)
L73del (p.Leu73del) in ALPL (P05186) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
L73del (p.Leu73del) variant details
- rs2148152384
- gnomAD 1-21561129-ATCC-A
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.59
- CADD 20.50
- Population evidence available
- Structural context available
- Literature evidence available