T389N (p.Thr389Asn) variant of ALPL (P05186)
T389N (p.Thr389Asn) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Adult hypophosphatasia; Hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
T389N (p.Thr389Asn) variant details
- p.Thr389Asn
- rs746390776
- ClinGen CA666745
- ClinVar RCV001596859
- ClinVar RCV002271662
- Pathogenic/Likely pathogenic
- not provided; Adult hypophosphatasia; Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.80
- AlphaMissense 0.55
- MetaLR 0.88
- MetaSVM 0.97
- CADD 25.20
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Adult hypophosphatasia; Hypophosphatasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)