R29S (p.Arg29Ser) variant of MSH6 (DNA mismatch repair protein Msh6)
R29S (p.Arg29Ser) 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 nonpolyposis colorectal neoplasms. The record also includes structural context.
R29S (p.Arg29Ser) variant details
- p.Arg29Ser
- ExAC rs756589186
- gnomAD rs756589186
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available