R184W (p.Arg184Trp) variant of ALPL (P05186)
R184W (p.Arg184Trp) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Osteogenesis imperfecta; Inborn genetic diseases; Hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R184W (p.Arg184Trp) variant details
- p.Arg184Trp
- rs763159520
- ClinGen CA666527
- cosmic curated COSV66379
- ClinVar RCV000623730
- Pathogenic/Likely pathogenic
- Osteogenesis imperfecta; Inborn genetic diseases; Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.94
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Osteogenesis imperfecta; Inborn genetic diseases; Hypophosphatas)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Population evidence available
- Structural context available
- Cited in: Correlations of genotype and phenotype in hypophosphatasia. (PMID 10332035)
- Cited in: A molecular approach to dominance in hypophosphatasia. (PMID 11479741)