E43D (p.Glu43Asp) variant of MTHFR (P42898)
E43D (p.Glu43Asp) in MTHFR (P42898) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
E43D (p.Glu43Asp) variant details
- p.Glu43Asp
- NCI-TCGA Cosmic COSV5674
- cosmic curated COSV56742
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available