E48K (p.Glu48Lys) variant of MLH3 (DNA mismatch repair protein Mlh3)
E48K (p.Glu48Lys) 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 published literature and structural context.
E48K (p.Glu48Lys) variant details
- p.Glu48Lys
- rs2503335964
- ClinGen CA390451494
- ClinVar RCV004057794
- ClinVar RCV005058619
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines… (PMID 34043773)