R391C (p.Arg391Cys) variant of ALPL (P05186)
R391C (p.Arg391Cys) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; Adult hypophosphatasia; Childhood hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R391C (p.Arg391Cys) variant details
- p.Arg391Cys
- rs371243939
- ClinGen CA666747
- ClinVar RCV000665189
- ClinVar RCV000763303
- Pathogenic
- Inborn genetic diseases; Adult hypophosphatasia; Childhood hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.94
- AlphaMissense 0.98
- MetaLR 0.96
- MetaSVM 1.06
- CADD 29.70
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Inborn genetic diseases; Adult hypophosphatasia; Childhood hypop)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Correlations of genotype and phenotype in hypophosphatasia. (PMID 10332035)
- Cited in: Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound… (PMID 19500388)