G221A (p.Gly221Ala) variant of ALPL (P05186)
G221A (p.Gly221Ala) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Childhood hypophosphatasia; Adult hypophosphatasia; Infantile hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
G221A (p.Gly221Ala) variant details
- p.Gly221Ala
- 1000Genomes rs566317085
- ExAC rs566317085
- gnomAD rs566317085
- Likely pathogenic
- Childhood hypophosphatasia; Adult hypophosphatasia; Infantile hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.97
- CADD 29.50
- PolyPhen-2 0.88
- SIFT 0.01
- ClinVar: Likely pathogenic (Childhood hypophosphatasia; Adult hypophosphatasia; Infantile hy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available