N42D (p.Asn42Asp) variant of MECOM (Q03112)
N42D (p.Asn42Asp) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data.
N42D (p.Asn42Asp) variant details
- p.Asn42Asp
- ExAC rs765894702
- TOPMed rs765894702
- gnomAD rs765894702
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- CADD 9.70
- PolyPhen-2 0.01
- SIFT 0.62
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)