L37P (p.Leu37Pro) variant of ALPL (P05186)
L37P (p.Leu37Pro) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hypophosphatasia; Adult hypophosphatasia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
L37P (p.Leu37Pro) variant details
- p.Leu37Pro
- rs143358506
- ClinGen CA19088076
- ClinVar RCV002630052
- ClinVar RCV003475519
- Pathogenic/Likely pathogenic
- Hypophosphatasia; Adult hypophosphatasia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.94
- CADD 25.20
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Hypophosphatasia; Adult hypophosphatasia; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)