K6M (p.Lys6Met) variant of MSH2 (DNA mismatch repair protein Msh2)
K6M (p.Lys6Met) in MSH2 (DNA mismatch repair protein Msh2) 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 0.57 / 1. The record also includes population frequency data and structural context.
K6M (p.Lys6Met) variant details
- p.Lys6Met
- Ensembl rs1672230236
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.75
- MetaLR 0.64
- MetaSVM 0.13
- CADD 24.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available