K27E (p.Lys27Glu) variant of ALPL (P05186)
K27E (p.Lys27Glu) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Childhood hypophosphatasia; Adult hypophosphatasia; Infantile hypophosphatasia. The record also includes structural context.
K27E (p.Lys27Glu) variant details
- p.Lys27Glu
- NCI-TCGA Cosmic COSV6637
- cosmic curated COSV66379
- Ensembl rs1644469548
- Uncertain significance
- Childhood hypophosphatasia; Adult hypophosphatasia; Infantile hypophosphatasia
- Missense
- ClinVar: Uncertain significance (Childhood hypophosphatasia; Adult hypophosphatasia; Infantile hy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available