Q4L (p.Gln4Leu) variant of MSH2 (DNA mismatch repair protein Msh2)
Q4L (p.Gln4Leu) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
Q4L (p.Gln4Leu) variant details
- p.Gln4Leu
- rs754562075
- ClinGen CA027207
- ClinVar RCV000219790
- ClinVar RCV000235807
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.21
- MetaLR 0.83
- MetaSVM 0.82
- CADD 23.90
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)