N13D (p.Asn13Asp) variant of MECOM (Q03112)
N13D (p.Asn13Asp) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
N13D (p.Asn13Asp) variant details
- p.Asn13Asp
- ExAC rs774899267
- gnomAD rs774899267
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- CADD 23.50
- PolyPhen-2 0.02
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)