H171R (p.His171Arg) variant of ALPL (P05186)
H171R (p.His171Arg) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hypophosphatasia; not provided; Adult hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
H171R (p.His171Arg) variant details
- p.His171Arg
- rs778232217
- ClinGen CA666518
- ClinVar RCV002630053
- ClinVar RCV003324080
- Pathogenic
- Hypophosphatasia; not provided; Adult hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.99
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Hypophosphatasia; not provided; Adult hypophosphatasia)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Structural evidence for a functional role of human tissue nonspecific alkaline phosphatase in bone mineralization. (PMID 11395499)
- Cited in: Hypophosphatasia. (PMID 20301329)