Q44R (p.Gln44Arg) variant of ALPL (P05186)
Q44R (p.Gln44Arg) in ALPL (P05186) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
Q44R (p.Gln44Arg) variant details
- p.Gln44Arg
- rs763244290
- gnomAD 1-21560691-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.768
- CADD 25.90
- Population evidence available
- Structural context available
- Literature evidence available