E291Q (p.Glu291Gln) variant of ALPL (P05186)
E291Q (p.Glu291Gln) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
E291Q (p.Glu291Gln) variant details
- p.Glu291Gln
- rs786204473
- ClinGen CA338880177
- ClinVar RCV003881692
- Likely pathogenic
- Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- AlphaMissense 0.88
- MetaLR 0.95
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.51
- ClinVar: Likely pathogenic (Hypophosphatasia)
- EBI: Likely pathogenic (in HOPS)
- UniProt: Likely pathogenic (in HOPS)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)