V459L (p.Val459Leu) variant of ALPL (P05186)
V459L (p.Val459Leu) 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; Hypophosphataemia or rickets; Hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
V459L (p.Val459Leu) variant details
- p.Val459Leu
- rs1054159992
- ClinGen CA338882067
- NCI-TCGA Cosmic COSV6637
- cosmic curated COSV66376
- Pathogenic/Likely pathogenic
- not provided; Hypophosphataemia or rickets; Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.90
- CADD 24.40
- PolyPhen-2 0.40
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hypophosphataemia or rickets; Hypophosphatasia)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound… (PMID 19500388)
- Cited in: Hypophosphatasia. (PMID 20301329)