D294A (p.Asp294Ala) variant of ALPL (P05186)
D294A (p.Asp294Ala) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of ALPL-related disorder; Adult hypophosphatasia; Hypophosphataemia or rickets. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
D294A (p.Asp294Ala) variant details
- p.Asp294Ala
- rs121918002
- ClinGen CA256921
- ClinVar RCV000014650
- ClinVar RCV000014651
- Pathogenic
- ALPL-related disorder; Adult hypophosphatasia; Hypophosphataemia or rickets
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.95
- AlphaMissense 0.96
- MetaLR 0.90
- MetaSVM 1.06
- CADD 28.90
- PolyPhen-2 1.00
- ClinVar: Pathogenic (ALPL-related disorder; Adult hypophosphatasia; Hypophosphataemia)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Population evidence available
- Structural context available
- Cited in: Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in… (PMID 11855933)
- Cited in: Kinetic characterization of hypophosphatasia mutations with physiological substrates. (PMID 12162492)