A1230P (p.Ala1230Pro) variant of MSH6 (DNA mismatch repair protein Msh6)
A1230P (p.Ala1230Pro) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Hereditary cancer-predisposing syndrome; Mismatch repair cancer syndrome 3; Endo. The record also includes structural context.
A1230P (p.Ala1230Pro) variant details
- p.Ala1230Pro
- Ensembl rs2104539037
- Likely pathogenic
- Hereditary cancer-predisposing syndrome; Mismatch repair cancer syndrome 3; Endo
- Missense
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome; Mismatch repair cancer)
- UniProt: Likely pathogenic
- Structural context available