Y69C (p.Tyr69Cys) variant of MECOM (Q03112)
Y69C (p.Tyr69Cys) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
Y69C (p.Tyr69Cys) variant details
- p.Tyr69Cys
- TOPMed rs1473639483
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- CADD 24.50
- PolyPhen-2 0.95
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)