E42K (p.Glu42Lys) variant of ALPL (P05186)
E42K (p.Glu42Lys) in ALPL (P05186) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
E42K (p.Glu42Lys) variant details
- p.Glu42Lys
- cosmic curated COSV10654
- Ensembl rs1558547291
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Structural context available