E45V (p.Glu45Val) variant of MECOM (Q03112)
E45V (p.Glu45Val) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
E45V (p.Glu45Val) variant details
- p.Glu45Val
- TOPMed rs1171738129
- gnomAD rs1171738129
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- CADD 20.30
- Most common in the African/African-American population (allele frequency 2.4e-05)