T167M (p.Thr167Met) variant of ALPL (P05186)
T167M (p.Thr167Met) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
T167M (p.Thr167Met) variant details
- p.Thr167Met
- rs1408325840
- ClinGen CA338877789
- ClinVar RCV001253034
- ClinVar RCV001879863
- Pathogenic/Likely pathogenic
- Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.98
- AlphaMissense 0.96
- MetaLR 0.97
- MetaSVM 1.08
- CADD 26.50
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)