A66T (p.Ala66Thr) variant of MECOM (Q03112)
A66T (p.Ala66Thr) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
A66T (p.Ala66Thr) variant details
- p.Ala66Thr
- TOPMed rs1474588403
- gnomAD rs1474588403
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- CADD 23.50
- PolyPhen-2 0.13
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)