K18* (p.Lys18Ter) variant of PALB2 (Partner and localizer of BRCA2)
K18* (p.Lys18Ter) in PALB2 (Partner and localizer of BRCA2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
K18* (p.Lys18Ter) variant details
- p.Lys18Ter
- Ensembl rs2142461206
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available