L7M (p.Leu7Met) variant of MSH6 (DNA mismatch repair protein Msh6)
L7M (p.Leu7Met) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L7M (p.Leu7Met) variant details
- p.Leu7Met
- rs1064795094
- ClinGen CA16617615
- cosmic curated COSV99315
- ClinVar RCV000539596
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.42
- MetaLR 0.54
- MetaSVM -0.13
- CADD 23.20
- PolyPhen-2 0.51
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)