M467T (p.Met467Thr) variant of ALPL (P05186)
M467T (p.Met467Thr) 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; Hypophosphatasia; Adult hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
M467T (p.Met467Thr) variant details
- p.Met467Thr
- rs763073466
- ClinGen CA666841
- ClinVar RCV001196910
- ClinVar RCV002560228
- Likely pathogenic
- not provided; Hypophosphatasia; Adult hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.86
- CADD 24.20
- PolyPhen-2 0.34
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Hypophosphatasia; Adult hypophosphatasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)