M219I (p.Met219Ile) variant of ALPL (P05186)
M219I (p.Met219Ile) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
M219I (p.Met219Ile) variant details
- p.Met219Ile
- rs776117933
- ClinGen CA666572
- ClinVar RCV001596919
- ClinVar RCV003333168
- Pathogenic/Likely pathogenic
- Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- REVEL 0.65
- CADD 24.20
- PolyPhen-2 0.25
- SIFT 0.05
- ClinVar: Pathogenic/Likely pathogenic (Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)