E8Q (p.Glu8Gln) variant of MLH3 (DNA mismatch repair protein Mlh3)
E8Q (p.Glu8Gln) in MLH3 (DNA mismatch repair protein Mlh3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
E8Q (p.Glu8Gln) variant details
- p.Glu8Gln
- rs2139615209
- ClinGen CA390452766
- ClinVar RCV004062615
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available