E54K (p.Glu54Lys) variant of MTHFR (P42898)
E54K (p.Glu54Lys) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
E54K (p.Glu54Lys) variant details
- p.Glu54Lys
- cosmic curated COSV56739
- TOPMed rs1196257926
- gnomAD rs1196257926
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.43
- CADD 23.10
- PolyPhen-2 0.37
- SIFT 0.37
- Most common in the Latino/Admixed American population (allele frequency 0.00065)
- Structural context available