E54D (p.Glu54Asp) variant of MTHFR (P42898)
E54D (p.Glu54Asp) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Homocystinuria due to methylene tetrahydrofolate reductase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
E54D (p.Glu54Asp) variant details
- p.Glu54Asp
- rs753692902
- ClinGen CA338423043
- ClinVar RCV001947633
- ExAC rs753692902
- Uncertain significance
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.26
- CADD 3.01
- PolyPhen-2 0.01
- SIFT 0.43
- ClinVar: Uncertain significance (Homocystinuria due to methylene tetrahydrofolate reductase defic)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available