L17Q (p.Leu17Gln) variant of MSH6 (DNA mismatch repair protein Msh6)
L17Q (p.Leu17Gln) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
L17Q (p.Leu17Gln) variant details
- p.Leu17Gln
- Ensembl rs1553408119
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available