C16G (p.Cys16Gly) variant of MECOM (Q03112)
C16G (p.Cys16Gly) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
C16G (p.Cys16Gly) variant details
- p.Cys16Gly
- ExAC rs762327252
- TOPMed rs762327252
- gnomAD rs762327252
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- CADD 19.10
- PolyPhen-2 0.45
- SIFT 0.51
- Most common in the African/African-American population (allele frequency 0.00014)