Q10R (p.Gln10Arg) variant of MSH2 (DNA mismatch repair protein Msh2)
Q10R (p.Gln10Arg) 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 cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
Q10R (p.Gln10Arg) variant details
- p.Gln10Arg
- Ensembl rs1573422771
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.48
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.39
- MetaSVM -0.34
- CADD 22.80
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available