E18G (p.Glu18Gly) variant of KMT2E (Histone reader KMT2E)
E18G (p.Glu18Gly) in KMT2E (Histone reader KMT2E) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
E18G (p.Glu18Gly) variant details
- p.Glu18Gly
- rs2129565358
- ClinGen CA368781968
- ClinVar RCV001760915
- Ensembl rs2129565358
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available