E476A (p.Glu476Ala) variant of ALPL (P05186)
E476A (p.Glu476Ala) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hypophosphatasia; Adult hypophosphatasia; Childhood hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
E476A (p.Glu476Ala) variant details
- p.Glu476Ala
- rs2148195004
- ClinGen CA338882175
- ClinVar RCV001731123
- ClinVar RCV001861033
- Pathogenic/Likely pathogenic
- Hypophosphatasia; Adult hypophosphatasia; Childhood hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.98
- AlphaMissense 0.96
- MetaLR 0.96
- MetaSVM 1.09
- CADD 29.50
- PolyPhen-2 0.98
- ClinVar: Pathogenic/Likely pathogenic (Hypophosphatasia; Adult hypophosphatasia; Childhood hypophosphat)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound… (PMID 19500388)
- Cited in: Hypophosphatasia. (PMID 20301329)