E452G (p.Glu452Gly) variant of ALPL (P05186)
E452G (p.Glu452Gly) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Childhood hypophosphatasia; Adult hypophosphatasia; Infantile hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
E452G (p.Glu452Gly) variant details
- p.Glu452Gly
- gnomAD rs1430797245
- Uncertain significance
- Childhood hypophosphatasia; Adult hypophosphatasia; Infantile hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.85
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Childhood hypophosphatasia; Adult hypophosphatasia; Infantile hy)
- EBI: Variant of uncertain significance (in HOPS)
- UniProt: Uncertain significance (in HOPS)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available