K131E (p.Lys131Glu) variant of RAD51C (O43502)
K131E (p.Lys131Glu) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Breast-ovarian cancer, familial, susceptibility to, 3. The record also includes structural context.
K131E (p.Lys131Glu) variant details
- p.Lys131Glu
- Ensembl rs2143727680
- Likely pathogenic
- Breast-ovarian cancer, familial, susceptibility to, 3
- Missense
- ClinVar: Likely pathogenic (Breast-ovarian cancer, familial, susceptibility to, 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available