R71H (p.Arg71His) variant of ALPL (P05186)
R71H (p.Arg71His) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R71H (p.Arg71His) variant details
- p.Arg71His
- rs121918003
- ClinGen CA19088467
- cosmic curated COSV66379
- ClinVar RCV001382221
- Pathogenic
- Hypophosphatasia; Adult hypophosphatasia; Childhood hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.97
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Hypophosphatasia; Adult hypophosphatasia; Childhood hypophosphat)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of… (PMID 11438998)
- Cited in: Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in… (PMID 11855933)