Y18F (p.Tyr18Phe) variant of MECOM (Q03112)
Y18F (p.Tyr18Phe) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
Y18F (p.Tyr18Phe) variant details
- p.Tyr18Phe
- TOPMed rs1319048281
- gnomAD rs1319048281
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- CADD 16.70
- PolyPhen-2 0.20
- SIFT 0.17
- Most common in the East Asian population (allele frequency 0.00019)