G75S (p.Gly75Ser) variant of ALPL (P05186)
G75S (p.Gly75Ser) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hypophosphatasia; Adult hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G75S (p.Gly75Ser) variant details
- p.Gly75Ser
- rs1304394441
- ClinGen CA338877969
- ClinVar RCV001382222
- ClinVar RCV003469672
- Pathogenic/Likely pathogenic
- not provided; Hypophosphatasia; Adult hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.98
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hypophosphatasia; Adult hypophosphatasia)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)