S5R (p.Ser5Arg) variant of MSH6 (DNA mismatch repair protein Msh6)
S5R (p.Ser5Arg) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes structural context.
S5R (p.Ser5Arg) variant details
- p.Ser5Arg
- ExAC rs778036049
- gnomAD rs778036049
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available