R223Q (p.Arg223Gln) variant of ALPL (P05186)
R223Q (p.Arg223Gln) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of ALPL-related disorder; Hypophosphatasia; Adult hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R223Q (p.Arg223Gln) variant details
- p.Arg223Gln
- rs199665722
- ClinGen CA666577
- cosmic curated COSV10531
- ClinVar RCV000428517
- Pathogenic/Likely pathogenic
- ALPL-related disorder; Hypophosphatasia; Adult hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- REVEL 0.97
- CADD 32.00
- PolyPhen-2 0.54
- SIFT 0.04
- ClinVar: Pathogenic/Likely pathogenic (ALPL-related disorder; Hypophosphatasia; Adult hypophosphatasia)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in… (PMID 11855933)
- Cited in: Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for… (PMID 15694177)