G89R (p.Gly89Arg) variant of MECOM (Q03112)
G89R (p.Gly89Arg) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data.
G89R (p.Gly89Arg) variant details
- p.Gly89Arg
- ExAC rs749226344
- gnomAD rs749226344
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)