E4Q (p.Glu4Gln) variant of CHEK2 (O96017)
E4Q (p.Glu4Gln) in CHEK2 (O96017) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
E4Q (p.Glu4Gln) variant details
- p.Glu4Gln
- Ensembl rs1555932959
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available