C4R (p.Cys4Arg) variant of MLH3 (DNA mismatch repair protein Mlh3)
C4R (p.Cys4Arg) 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.
C4R (p.Cys4Arg) variant details
- p.Cys4Arg
- rs2503339754
- ClinGen CA390452830
- ClinVar RCV004521104
- ClinVar RCV006564927
- 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)