C16R (p.Cys16Arg) variant of MECOM (Q03112)
C16R (p.Cys16Arg) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
C16R (p.Cys16Arg) variant details
- p.Cys16Arg
- ExAC rs762327252
- TOPMed rs762327252
- gnomAD rs762327252
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- CADD 22.80
- PolyPhen-2 0.73
- SIFT 0.30
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)