C47W (p.Cys47Trp) variant of MECOM (Q03112)
C47W (p.Cys47Trp) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
C47W (p.Cys47Trp) variant details
- p.Cys47Trp
- ESP rs373555129
- TOPMed rs373555129
- gnomAD rs373555129
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- CADD 19.40
- PolyPhen-2 0.21
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)