V80I (p.Val80Ile) variant of MSH6 (DNA mismatch repair protein Msh6)
V80I (p.Val80Ile) 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; Hereditary cancer-predisposing syn. The record also includes structural context.
V80I (p.Val80Ile) variant details
- p.Val80Ile
- rs2103943939
- ClinGen CA346735111
- ClinVar RCV003164562
- Ensembl rs2103943939
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available