A9S (p.Ala9Ser) variant of CHEK2 (O96017)
A9S (p.Ala9Ser) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome; CHEK2-related cancer pred. The record also includes structural context.
A9S (p.Ala9Ser) variant details
- p.Ala9Ser
- ExAC rs757530141
- gnomAD rs757530141
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; CHEK2-related cancer pred
- Missense
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; CHEK2-rel)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available