V459M (p.Val459Met) variant of ALPL (P05186)
V459M (p.Val459Met) 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; Hypophosphatasia; Paediatric disorders. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
V459M (p.Val459Met) variant details
- p.Val459Met
- rs1054159992
- ClinGen CA19072056
- ClinVar RCV000669598
- ClinVar RCV001378584
- Pathogenic/Likely pathogenic
- not provided; Hypophosphatasia; Paediatric disorders
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.95
- CADD 28.10
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hypophosphatasia; Paediatric disorders)
- EBI: Pathogenic (in HPPI)
- UniProt: Pathogenic (in HPPI)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of… (PMID 11438998)
- Cited in: Hypophosphatasia. (PMID 20301329)