I43N (p.Ile43Asn) variant of MECOM (Q03112)
I43N (p.Ile43Asn) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
I43N (p.Ile43Asn) variant details
- p.Ile43Asn
- TOPMed rs1435450452
- gnomAD rs1435450452
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- CADD 16.70
- PolyPhen-2 0.24
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)