Q44P (p.Gln44Pro) variant of MECOM (Q03112)
Q44P (p.Gln44Pro) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
Q44P (p.Gln44Pro) variant details
- p.Gln44Pro
- ExAC rs762237413
- TOPMed rs762237413
- gnomAD rs762237413
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the African/African-American population (allele frequency 2.4e-05)