E14Q (p.Glu14Gln) variant of RAD51D (O75771)
E14Q (p.Glu14Gln) in RAD51D (O75771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Breast-ovarian cancer, familial, susceptibility to, 4. The record also includes structural context.
E14Q (p.Glu14Gln) variant details
- p.Glu14Gln
- rs562456790
- ClinGen CA399092476
- cosmic curated COSV50103
- ClinVar RCV003644359
- Uncertain significance
- Breast-ovarian cancer, familial, susceptibility to, 4
- Missense
- ClinVar: Uncertain significance (Breast-ovarian cancer, familial, susceptibility to, 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available