C47Y (p.Cys47Tyr) variant of MECOM (Q03112)
C47Y (p.Cys47Tyr) in MECOM (Q03112) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data.
C47Y (p.Cys47Tyr) variant details
- p.Cys47Tyr
- ExAC rs768309554
- TOPMed rs768309554
- gnomAD rs768309554
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- CADD 14.90
- PolyPhen-2 0.08
- SIFT 0.26
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00077)