E476K (p.Glu476Lys) variant of ALPL (P05186)
E476K (p.Glu476Lys) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of ALPL-related disorder; Adult hypophosphatasia; Childhood hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
E476K (p.Glu476Lys) variant details
- p.Glu476Lys
- rs1057517173
- ClinGen CA338882172
- NCI-TCGA Cosmic COSV6637
- Pathogenic/Likely pathogenic
- ALPL-related disorder; Adult hypophosphatasia; Childhood hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.95
- AlphaMissense 0.84
- MetaLR 0.95
- MetaSVM 1.08
- CADD 25.70
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (ALPL-related disorder; Adult hypophosphatasia; Childhood hypopho)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X… (PMID 10094560)
- Cited in: Correlations of genotype and phenotype in hypophosphatasia. (PMID 10332035)