E15K (p.Glu15Lys) variant of MECOM (Q03112)
E15K (p.Glu15Lys) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
E15K (p.Glu15Lys) variant details
- p.Glu15Lys
- ExAC rs770279647
- TOPMed rs770279647
- gnomAD rs770279647
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- CADD 20.70
- PolyPhen-2 0.48
- SIFT 0.26
- Most common in the African/African-American population (allele frequency 4.8e-05)