D33N (p.Asp33Asn) variant of MECOM (Q03112)
D33N (p.Asp33Asn) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
D33N (p.Asp33Asn) variant details
- p.Asp33Asn
- ExAC rs753669729
- gnomAD rs753669729
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- CADD 22.40
- PolyPhen-2 0.22
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)