G111A (p.Gly111Ala) variant of MECOM (Q03112)
G111A (p.Gly111Ala) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data.
G111A (p.Gly111Ala) variant details
- p.Gly111Ala
- TOPMed rs927897039
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- CADD 16.50
- PolyPhen-2 0.51
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)