A468S (p.Ala468Ser) variant of ALPL (P05186)
A468S (p.Ala468Ser) 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; Infantile hypophosphatasia; Adult hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
A468S (p.Ala468Ser) variant details
- p.Ala468Ser
- rs1196976671
- ClinGen CA338882124
- ClinVar RCV002011524
- ClinVar RCV005017072
- Likely pathogenic
- Childhood hypophosphatasia; Infantile hypophosphatasia; Adult hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.73
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.19
- ClinVar: Likely pathogenic (Childhood hypophosphatasia; Infantile hypophosphatasia; Adult hy)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)