C16S (p.Cys16Ser) variant of MECOM (Q03112)
C16S (p.Cys16Ser) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
C16S (p.Cys16Ser) variant details
- p.Cys16Ser
- ExAC rs776402461
- TOPMed rs776402461
- gnomAD rs776402461
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- CADD 14.60
- PolyPhen-2 0.53
- SIFT 0.83
- Most common in the REMAINING population (allele frequency 1.7e-05)