F327C (p.Phe327Cys) variant of ALPL (P05186)
F327C (p.Phe327Cys) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hypophosphatasia; Osteogenesis imperfecta; Adult hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
F327C (p.Phe327Cys) variant details
- p.Phe327Cys
- rs779832611
- ClinGen CA666695
- ClinVar RCV001972665
- ClinVar RCV002276955
- Pathogenic/Likely pathogenic
- Hypophosphatasia; Osteogenesis imperfecta; Adult hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.98
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hypophosphatasia; Osteogenesis imperfecta; Adult hypophosphatasi)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)