I359M (p.Ile359Met) variant of ALPL (P05186)
I359M (p.Ile359Met) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
I359M (p.Ile359Met) variant details
- p.Ile359Met
- rs567349821
- ClinGen CA338881183
- ClinVar RCV001210319
- ClinVar RCV002497720
- Pathogenic/Likely pathogenic
- Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.69
- CADD 9.86
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)