D31G (p.Asp31Gly) variant of MECOM (Q03112)
D31G (p.Asp31Gly) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
D31G (p.Asp31Gly) variant details
- p.Asp31Gly
- TOPMed rs1191468270
- gnomAD rs1191468270
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- CADD 15.20
- PolyPhen-2 0.11
- SIFT 0.37
- Most common in the East Asian population (allele frequency 0.00019)