A33V (p.Ala33Val) variant of ALPL (P05186)
A33V (p.Ala33Val) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Childhood hypophosphatasia; Infantile hypophosphatasia; Adult hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
A33V (p.Ala33Val) variant details
- p.Ala33Val
- rs121918005
- ClinGen CA256924
- ClinVar RCV000014655
- ClinVar RCV001042961
- Pathogenic/Likely pathogenic
- Childhood hypophosphatasia; Infantile hypophosphatasia; Adult hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.87
- CADD 23.70
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Childhood hypophosphatasia; Infantile hypophosphatasia; Adult hy)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Kinetic characterization of hypophosphatasia mutations with physiological substrates. (PMID 12162492)
- Cited in: Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively… (PMID 1409720)