Q4R (p.Gln4Arg) variant of MSH2 (DNA mismatch repair protein Msh2)
Q4R (p.Gln4Arg) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
Q4R (p.Gln4Arg) variant details
- p.Gln4Arg
- ExAC rs754562075
- TOPMed rs754562075
- gnomAD rs754562075
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.63
- ESM-1b 0.00
- AlphaMissense 0.29
- MetaLR 0.71
- MetaSVM 0.20
- CADD 22.40
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:DRUZE population (allele frequency 0.1)
- Structural context available