R184Q (p.Arg184Gln) variant of ALPL (P05186)
R184Q (p.Arg184Gln) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hypophosphatasia; Adult hypophosphatasia; Childhood 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.
R184Q (p.Arg184Gln) variant details
- p.Arg184Gln
- rs1558549798
- ClinGen CA338877996
- ClinVar RCV001974856
- ClinVar RCV002507646
- Pathogenic
- Hypophosphatasia; Adult hypophosphatasia; Childhood hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.97
- CADD 31.00
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Pathogenic (Hypophosphatasia; Adult hypophosphatasia; Childhood hypophosphat)
- 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: Hypophosphatasia. (PMID 20301329)