P39T (p.Pro39Thr) variant of MECOM (Q03112)
P39T (p.Pro39Thr) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data.
P39T (p.Pro39Thr) variant details
- p.Pro39Thr
- ESP rs371288694
- ExAC rs371288694
- TOPMed rs371288694
- gnomAD rs371288694
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- CADD 2.08
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 4.8e-05)