L275P (p.Leu275Pro) variant of ALPL (P05186)
L275P (p.Leu275Pro) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Adult hypophosphatasia; not provided; Hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
L275P (p.Leu275Pro) variant details
- p.Leu275Pro
- rs1237252052
- ClinGen CA338879935
- ClinVar RCV001213860
- ClinVar RCV004570471
- Pathogenic/Likely pathogenic
- Adult hypophosphatasia; not provided; Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.97
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Adult hypophosphatasia; not provided; Hypophosphatasia)
- EBI: Pathogenic (in HPPC)
- UniProt: Pathogenic (in HPPC)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)