S19L (p.Ser19Leu) variant of CHEK2 (O96017)
S19L (p.Ser19Leu) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial cancer of breast. The record also includes structural context.
S19L (p.Ser19Leu) variant details
- p.Ser19Leu
- cosmic curated COSV60423
- Ensembl rs1555932877
- Uncertain significance
- Familial cancer of breast
- Missense
- ClinVar: Uncertain significance (Familial cancer of breast)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available