R71P (p.Arg71Pro) variant of ALPL (P05186)
R71P (p.Arg71Pro) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hypophosphatasia; Adult hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
R71P (p.Arg71Pro) variant details
- p.Arg71Pro
- rs121918003
- ClinGen CA256922
- ClinVar RCV000014653
- ClinVar RCV001362179
- Pathogenic/Likely pathogenic
- not provided; Hypophosphatasia; Adult hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- REVEL 0.99
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hypophosphatasia; Adult hypophosphatasia)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the Non-Finnish European population (allele frequency 2.8e-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)