E24D (p.Glu24Asp) variant of MTHFR (P42898)
E24D (p.Glu24Asp) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
E24D (p.Glu24Asp) variant details
- p.Glu24Asp
- ExAC rs752585350
- gnomAD rs752585350
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.37
- CADD 23.50
- PolyPhen-2 0.97
- SIFT 0.23
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available