E476G (p.Glu476Gly) variant of ALPL (P05186)
E476G (p.Glu476Gly) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
E476G (p.Glu476Gly) variant details
- p.Glu476Gly
- rs2148195004
- ClinGen CA338882176
- ClinVar RCV002014391
- ClinVar RCV005645359
- Likely pathogenic
- not provided; Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- AlphaMissense 0.96
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.75
- ClinVar: Likely pathogenic (not provided; Hypophosphatasia)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)