D337G (p.Asp337Gly) variant of ALPL (P05186)
D337G (p.Asp337Gly) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
D337G (p.Asp337Gly) variant details
- p.Asp337Gly
- rs1219494274
- ClinGen CA338880974
- ClinVar RCV000668539
- ClinVar RCV001066978
- Pathogenic/Likely pathogenic
- Hypophosphatasia; Adult hypophosphatasia; Childhood hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.96
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Hypophosphatasia; Adult hypophosphatasia; Childhood hypophosphat)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)