G144E (p.Gly144Glu) variant of ALPL (P05186)
G144E (p.Gly144Glu) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
G144E (p.Gly144Glu) variant details
- p.Gly144Glu
- rs1291792579
- ClinGen CA338877318
- NCI-TCGA Cosmic COSV6638
- cosmic curated COSV66380
- Conflicting interpretations
- Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.82
- AlphaMissense 0.48
- MetaLR 0.93
- MetaSVM 1.04
- CADD 28.00
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)