G220A (p.Gly220Ala) variant of ALPL (P05186)
G220A (p.Gly220Ala) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Infantile hypophosphatasia; Adult hypophosphatasia; Childhood hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G220A (p.Gly220Ala) variant details
- p.Gly220Ala
- rs1644592603
- ClinGen CA338879046
- ClinVar RCV001389956
- ClinVar RCV001831402
- Pathogenic/Likely pathogenic
- Infantile hypophosphatasia; Adult hypophosphatasia; Childhood hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.96
- CADD 29.50
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Infantile hypophosphatasia; Adult hypophosphatasia; Childhood hy)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene. (PMID 12815606)
- Cited in: Hypophosphatasia. (PMID 20301329)