G5V (p.Gly5Val) variant of MECOM (Q03112)
G5V (p.Gly5Val) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data.
G5V (p.Gly5Val) variant details
- p.Gly5Val
- TOPMed rs960179876
- gnomAD rs960179876
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- CADD 23.20
- PolyPhen-2 0.26
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 4.8e-05)