R223W (p.Arg223Trp) variant of ALPL (P05186)
R223W (p.Arg223Trp) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Hypophosphatasia; 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.
R223W (p.Arg223Trp) variant details
- p.Arg223Trp
- rs766076920
- ClinGen CA274235
- NCI-TCGA Cosmic COSV6637
- cosmic curated COSV66376
- Pathogenic
- not provided; Hypophosphatasia; Adult hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.95
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Hypophosphatasia; Adult hypophosphatasia)
- EBI: Pathogenic (in HOPS and HPPC)
- UniProt: Pathogenic (in HOPS and HPPC)
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- 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)