Q32* (p.Gln32Ter) variant of ALPL (P05186)
Q32* (p.Gln32Ter) in ALPL (P05186) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
Q32* (p.Gln32Ter) variant details
- p.Gln32Ter
- rs1209147330
- ClinGen CA338877498
- ClinVar RCV001251316
- ClinVar RCV002568714
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.735
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)