E291K (p.Glu291Lys) variant of ALPL (P05186)
E291K (p.Glu291Lys) 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; Hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
E291K (p.Glu291Lys) variant details
- p.Glu291Lys
- rs786204473
- ClinGen CA273965
- ClinVar RCV000169122
- ClinVar RCV002515193
- Pathogenic/Likely pathogenic
- not provided; Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.94
- AlphaMissense 0.88
- MetaLR 0.95
- MetaSVM 1.08
- CADD 29.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hypophosphatasia)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Correlations of genotype and phenotype in hypophosphatasia. (PMID 10332035)
- Cited in: Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia… (PMID 11999978)