Q4L (p.Gln4Leu) variant of MSH6 (DNA mismatch repair protein Msh6)
Q4L (p.Gln4Leu) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Lynch syndrome. The record also includes published literature and structural context.
Q4L (p.Gln4Leu) variant details
- p.Gln4Leu
- rs1572697725
- ClinGen CA346734478
- ClinVar RCV004007968
- Uncertain significance
- Lynch syndrome
- Missense
- ClinVar: Uncertain significance (Lynch syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)