N14D (p.Asn14Asp) variant of MECOM (Q03112)
N14D (p.Asn14Asp) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data.
N14D (p.Asn14Asp) variant details
- p.Asn14Asp
- TOPMed rs1370395898
- gnomAD rs1370395898
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)