R71C (p.Arg71Cys) variant of ALPL (P05186)
R71C (p.Arg71Cys) 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 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R71C (p.Arg71Cys) variant details
- p.Arg71Cys
- rs121918001
- ClinGen CA256920
- ClinVar RCV000014649
- ClinVar RCV001851857
- Pathogenic
- not provided; Hypophosphatasia; Adult hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- REVEL 0.99
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Hypophosphatasia; 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: Kinetic characterization of hypophosphatasia mutations with physiological substrates. (PMID 12162492)
- Cited in: Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively… (PMID 1409720)