E2Q (p.Glu2Gln) variant of DCC (Netrin receptor DCC)
E2Q (p.Glu2Gln) in DCC (Netrin receptor DCC) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
E2Q (p.Glu2Gln) variant details
- p.Glu2Gln
- ExAC rs779492300
- TOPMed rs779492300
- gnomAD rs779492300
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.30
- MetaLR 0.16
- MetaSVM -0.72
- CADD 27.40
- PolyPhen-2 0.93
- SIFT 0.06
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available