G144A (p.Gly144Ala) variant of ALPL (P05186)
G144A (p.Gly144Ala) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Childhood hypophosphatasia; Adult hypophosphatasia; Infantile hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
G144A (p.Gly144Ala) variant details
- p.Gly144Ala
- rs1291792579
- ClinGen CA338877319
- ClinVar RCV003682700
- ClinVar RCV004554924
- Likely pathogenic
- Childhood hypophosphatasia; Adult hypophosphatasia; Infantile hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- AlphaMissense 0.48
- MetaLR 0.93
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.05
- EVE 0.23
- ClinVar: Likely pathogenic (Childhood hypophosphatasia; Adult hypophosphatasia; Infantile hy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)