M226I (p.Met226Ile) variant of ALPL (P05186)
M226I (p.Met226Ile) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Adult hypophosphatasia; Infantile hypophosphatasia; Childhood hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
M226I (p.Met226Ile) variant details
- p.Met226Ile
- TOPMed rs1265450081
- gnomAD rs1265450081
- Likely pathogenic
- Adult hypophosphatasia; Infantile hypophosphatasia; Childhood hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.94
- CADD 28.90
- PolyPhen-2 0.68
- SIFT 0.01
- ClinVar: Likely pathogenic (Hypophosphatasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available