G473S (p.Gly473Ser) variant of ALPL (P05186)
G473S (p.Gly473Ser) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; 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.
G473S (p.Gly473Ser) variant details
- p.Gly473Ser
- rs1644755212
- ClinGen CA338882153
- NCI-TCGA Cosmic COSV6637
- cosmic curated COSV66376
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Adult hypophosphatasia; Childhood hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.96
- CADD 31.00
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Adult hypophosphatasia; Childhood hypop)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Correlations of genotype and phenotype in hypophosphatasia. (PMID 10332035)
- Cited in: Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European… (PMID 9781036)