I76M (p.Ile76Met) variant of MECOM (Q03112)
I76M (p.Ile76Met) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
I76M (p.Ile76Met) variant details
- p.Ile76Met
- TOPMed rs1560202347
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- CADD 23.00
- PolyPhen-2 0.71
- SIFT 0.05
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)