C40F (p.Cys40Phe) variant of MLH3 (DNA mismatch repair protein Mlh3)
C40F (p.Cys40Phe) 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.
C40F (p.Cys40Phe) variant details
- p.Cys40Phe
- ExAC rs746448677
- gnomAD rs746448677
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available