T68M (p.Thr68Met) variant of ALPL (P05186)
T68M (p.Thr68Met) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hypophosphatasia; Adult hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
T68M (p.Thr68Met) variant details
- p.Thr68Met
- rs1644478533
- ClinGen CA338877904
- cosmic curated COSV10087
- ClinVar RCV001389815
- Pathogenic/Likely pathogenic
- not provided; Hypophosphatasia; Adult hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.97
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hypophosphatasia; Adult hypophosphatasia)
- EBI: Pathogenic (in HPPC)
- UniProt: Pathogenic (in HPPC)
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia. (PMID 11760847)
- Cited in: Hypophosphatasia. (PMID 20301329)