A132T (p.Ala132Thr) variant of ALPL (P05186)
A132T (p.Ala132Thr) 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; Infantile hypophosphatasia; Adult hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
A132T (p.Ala132Thr) variant details
- p.Ala132Thr
- rs757771793
- ClinGen CA666473
- ClinVar RCV002001562
- ClinVar RCV002236196
- Likely pathogenic
- not provided; Infantile hypophosphatasia; Adult hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.86
- CADD 28.30
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Likely pathogenic (not provided; Infantile hypophosphatasia; Adult hypophosphatasia)
- EBI: Likely pathogenic (in HOPS)
- UniProt: Likely pathogenic (in HOPS)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)