E84A (p.Glu84Ala) variant of MECOM (Q03112)
E84A (p.Glu84Ala) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data.
E84A (p.Glu84Ala) variant details
- p.Glu84Ala
- TOPMed rs898016993
- gnomAD rs898016993
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- CADD 27.20
- Most common in the HGDP:SARDINIAN population (allele frequency 0.019)