G426S (p.Gly426Ser) variant of ALPL (P05186)
G426S (p.Gly426Ser) 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 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
G426S (p.Gly426Ser) variant details
- p.Gly426Ser
- rs770548228
- ClinGen CA666792
- NCI-TCGA Cosmic COSV6637
- cosmic curated COSV66376
- Pathogenic/Likely pathogenic
- Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.81
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.09
- ClinVar: Pathogenic/Likely pathogenic (Adult hypophosphatasia; Childhood hypophosphatasia; Infantile 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)