S16R (p.Ser16Arg) variant of RAD51C (O43502)
S16R (p.Ser16Arg) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O. The record also includes structural context.
S16R (p.Ser16Arg) variant details
- p.Ser16Arg
- ExAC rs766058636
- gnomAD rs766058636
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Fanconi anemia compleme)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available