A132V (p.Ala132Val) variant of ALPL (P05186)
A132V (p.Ala132Val) 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; Semidominant ALPL-related disorders; Childhood hypophosp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
A132V (p.Ala132Val) variant details
- p.Ala132Val
- rs1558548925
- ClinGen CA338877252
- ClinVar RCV000730364
- ClinVar RCV001825460
- Pathogenic/Likely pathogenic
- Adult hypophosphatasia; Semidominant ALPL-related disorders; Childhood hypophosp
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- AlphaMissense 0.21
- MetaLR 0.90
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.22
- EVE 0.13
- ClinVar: Pathogenic/Likely pathogenic (Adult hypophosphatasia; Semidominant ALPL-related disorders; Chi)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Structural context available
- Cited in: A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type… (PMID 11834095)
- Cited in: Kinetic characterization of hypophosphatasia mutations with physiological substrates. (PMID 12162492)