I43F (p.Ile43Phe) variant of MECOM (Q03112)
I43F (p.Ile43Phe) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data.
I43F (p.Ile43Phe) variant details
- p.Ile43Phe
- gnomAD rs893762079
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- CADD 1.35
- PolyPhen-2 0.03
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 2.4e-05)