G72E (p.Gly72Glu) variant of MTHFR (P42898)
G72E (p.Gly72Glu) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
G72E (p.Gly72Glu) variant details
- p.Gly72Glu
- cosmic curated COSV56742
- gnomAD rs1644422409
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.75
- CADD 25.70
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available