E54Q (p.Glu54Gln) variant of MTHFR (P42898)
E54Q (p.Glu54Gln) in MTHFR (P42898) is a missense change. The record also includes structural context.
E54Q (p.Glu54Gln) variant details
- p.Glu54Gln
- cosmic curated COSV56742
- Missense
- Structural context available