M1T (p.Met1Thr) variant of MSH6 (DNA mismatch repair protein Msh6)
M1T (p.Met1Thr) 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.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs2530313399
- ClinGen CA346734460
- ClinVar RCV003017388
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available