K27E (p.Lys27Glu) variant of MTHFR (P42898)
K27E (p.Lys27Glu) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
K27E (p.Lys27Glu) variant details
- p.Lys27Glu
- TOPMed rs1484182630
- gnomAD rs1484182630
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.29
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available