G455S (p.Gly455Ser) variant of ALPL (P05186)
G455S (p.Gly455Ser) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G455S (p.Gly455Ser) variant details
- p.Gly455Ser
- rs149889416
- ClinGen CA666834
- ClinVar RCV000411942
- ClinVar RCV000778967
- Pathogenic/Likely pathogenic
- Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.87
- CADD 25.20
- PolyPhen-2 0.96
- SIFT 0.22
- ClinVar: Pathogenic/Likely pathogenic (Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)