R71S (p.Arg71Ser) variant of ALPL (P05186)
R71S (p.Arg71Ser) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R71S (p.Arg71Ser) variant details
- p.Arg71Ser
- rs121918001
- ClinGen CA666434
- ClinVar RCV003476483
- ClinVar RCV003553956
- Pathogenic/Likely pathogenic
- not provided; Hypophosphatasia; Adult hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.96
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hypophosphatasia; Adult hypophosphatasia)
- EBI: Pathogenic (in HPPC)
- UniProt: Pathogenic (in HPPC)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia. (PMID 11760847)
- Cited in: Hypophosphatasia. (PMID 20301329)