I68N (p.Ile68Asn) variant of MECOM (Q03112)
I68N (p.Ile68Asn) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data.
I68N (p.Ile68Asn) variant details
- p.Ile68Asn
- TOPMed rs1732353367
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- CADD 24.30
- PolyPhen-2 0.36
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.0001)