C16Y (p.Cys16Tyr) variant of MECOM (Q03112)
C16Y (p.Cys16Tyr) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data.
C16Y (p.Cys16Tyr) variant details
- p.Cys16Tyr
- ExAC rs776402461
- TOPMed rs776402461
- gnomAD rs776402461
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- CADD 18.10
- PolyPhen-2 0.41
- SIFT 0.12
- Most common in the African/African-American population (allele frequency 2.4e-05)