G111R (p.Gly111Arg) variant of MECOM (Q03112)
G111R (p.Gly111Arg) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data.
G111R (p.Gly111Arg) variant details
- p.Gly111Arg
- TOPMed rs1275667362
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- CADD 23.70
- PolyPhen-2 0.94
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)