E16Q (p.Glu16Gln) variant of MTHFR (P42898)
E16Q (p.Glu16Gln) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E16Q (p.Glu16Gln) variant details
- p.Glu16Gln
- TOPMed rs1557771398
- gnomAD rs1557771398
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.26
- CADD 11.20
- PolyPhen-2 0.05
- SIFT 0.36
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available