E45A (p.Glu45Ala) variant of MECOM (Q03112)
E45A (p.Glu45Ala) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
E45A (p.Glu45Ala) variant details
- p.Glu45Ala
- TOPMed rs1171738129
- gnomAD rs1171738129
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- CADD 17.50
- PolyPhen-2 0.12
- SIFT 0.37
- Most common in the South Asian population (allele frequency 1.2e-05)