A132G (p.Ala132Gly) variant of ALPL (P05186)
A132G (p.Ala132Gly) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Adult hypophosphatasia; Childhood hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes structural context.
A132G (p.Ala132Gly) variant details
- p.Ala132Gly
- rs1558548925
- ClinGen CA338877251
- ClinVar RCV002028482
- Ensembl rs1558548925
- Likely pathogenic
- not provided; Adult hypophosphatasia; Childhood hypophosphatasia
- 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: Likely pathogenic (not provided; Adult hypophosphatasia; Childhood hypophosphatasia)
- EBI: Likely pathogenic (in HOPS)
- UniProt: Likely pathogenic (in HOPS)
- Structural context available