E4K (p.Glu4Lys) variant of MTHFR (P42898)
E4K (p.Glu4Lys) 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 0.40 / 1. The record also includes population frequency data and structural context.
E4K (p.Glu4Lys) variant details
- p.Glu4Lys
- rs772252042
- ClinGen CA595761
- ClinVar RCV003095698
- ExAC rs772252042
- Uncertain significance
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.38
- CADD 22.60
- PolyPhen-2 0.12
- SIFT 0.08
- ClinVar: Uncertain significance (Homocystinuria due to methylene tetrahydrofolate reductase defic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.6e-05)
- Structural context available