A51V (p.Ala51Val) variant of ALPL (P05186)
A51V (p.Ala51Val) 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; not provided; Adult hypophosphatasia. 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.
A51V (p.Ala51Val) variant details
- p.Ala51Val
- rs1470389268
- UniProt VAR 013973
- gnomAD rs1470389268
- Pathogenic/Likely pathogenic
- Hypophosphatasia; not provided; Adult hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.86
- CADD 24.00
- PolyPhen-2 0.12
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hypophosphatasia; not provided; Adult hypophosphatasia)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of… (PMID 11438998)
- Cited in: Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X… (PMID 10094560)