L9Q (p.Leu9Gln) variant of MSH2 (DNA mismatch repair protein Msh2)
L9Q (p.Leu9Gln) 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 0.68 / 1. The record also includes structural context.
L9Q (p.Leu9Gln) variant details
- p.Leu9Gln
- Ensembl rs1573422744
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- ESM-1b 1.00
- AlphaMissense 0.29
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available