E15G (p.Glu15Gly) variant of MECOM (Q03112)
E15G (p.Glu15Gly) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
E15G (p.Glu15Gly) variant details
- p.Glu15Gly
- gnomAD rs1302165695
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- CADD 22.70
- PolyPhen-2 0.68
- SIFT 0.59
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)