G59E (p.Gly59Glu) variant of ALPL (P05186)
G59E (p.Gly59Glu) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G59E (p.Gly59Glu) variant details
- p.Gly59Glu
- rs925157796
- ClinGen CA19088185
- ClinVar RCV003448555
- ClinVar RCV003708802
- Conflicting interpretations
- not provided; Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- REVEL 0.99
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hypophosphatasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)