T100M (p.Thr100Met) variant of ALPL (P05186)
T100M (p.Thr100Met) 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; Childhood hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
T100M (p.Thr100Met) variant details
- p.Thr100Met
- rs1201942473
- ClinGen CA338877051
- NCI-TCGA Cosmic COSV6638
- cosmic curated COSV66380
- Pathogenic/Likely pathogenic
- not provided; Adult hypophosphatasia; Childhood hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- REVEL 0.95
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Adult hypophosphatasia; Childhood hypophosphatasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)