L7P (p.Leu7Pro) variant of MSH6 (DNA mismatch repair protein Msh6)
L7P (p.Leu7Pro) 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; Hereditary nonpolyposis colorectal neop. The record also includes structural context.
L7P (p.Leu7Pro) variant details
- p.Leu7Pro
- rs2103931561
- ClinGen CA346734496
- ClinVar RCV002023547
- Ensembl rs2103931561
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available