L17P (p.Leu17Pro) variant of MSH6 (DNA mismatch repair protein Msh6)
L17P (p.Leu17Pro) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
L17P (p.Leu17Pro) variant details
- p.Leu17Pro
- rs1553408119
- ClinGen CA346734547
- ClinVar RCV000546866
- ClinVar RCV004696930
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)
- Cited in: Endometrial cancer: a review and current management strategies: part I. (PMID 24905773)