W29* (p.Trp29Ter) variant of ALPL (P05186)
W29* (p.Trp29Ter) in ALPL (P05186) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
W29* (p.Trp29Ter) variant details
- p.Trp29Ter
- rs1553411779
- ClinGen CA338877483
- ClinVar RCV000666764
- ClinVar RCV005091931
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)