A116T (p.Ala116Thr) variant of ALPL (P05186)
A116T (p.Ala116Thr) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Hypophosphatasia; Adult hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
A116T (p.Ala116Thr) variant details
- p.Ala116Thr
- rs121918013
- ClinGen CA123348
- cosmic curated COSV10971
- ClinVar RCV000014668
- Pathogenic
- not provided; Hypophosphatasia; Adult hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.97
- CADD 28.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Hypophosphatasia; Adult hypophosphatasia)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the Non-Finnish European population (allele frequency 3e-05)
- Structural context available
- Cited in: Characterization of a family with dominant hypophosphatasia. (PMID 10872988)
- Cited in: Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of… (PMID 11438998)