A179T (p.Ala179Thr) variant of ALPL (P05186)
A179T (p.Ala179Thr) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Semidominant ALPL-related disorders; Adult hypophosphatasia; Childhood hypophosp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
A179T (p.Ala179Thr) variant details
- p.Ala179Thr
- rs121918000
- ClinGen CA256919
- cosmic curated COSV66379
- ClinVar RCV000014648
- Pathogenic
- Semidominant ALPL-related disorders; Adult hypophosphatasia; Childhood hypophosp
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.94
- CADD 23.70
- PolyPhen-2 0.22
- SIFT 0.01
- ClinVar: Pathogenic (Semidominant ALPL-related disorders; Adult hypophosphatasia; Chi)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Cited in: Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of… (PMID 11438998)
- Cited in: Kinetic characterization of hypophosphatasia mutations with physiological substrates. (PMID 12162492)