S53T (p.Ser53Thr) variant of MECOM (Q03112)
S53T (p.Ser53Thr) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
S53T (p.Ser53Thr) variant details
- p.Ser53Thr
- ExAC rs770881104
- TOPMed rs770881104
- gnomAD rs770881104
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- CADD 14.60
- PolyPhen-2 0.02
- SIFT 0.08
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)