E40Q (p.Glu40Gln) variant of MTHFR (P42898)
E40Q (p.Glu40Gln) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
E40Q (p.Glu40Gln) variant details
- p.Glu40Gln
- TOPMed rs1644425771
- gnomAD rs1644425771
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.38
- CADD 21.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available