E2K (p.Glu2Lys) variant of DCC (Netrin receptor DCC)
E2K (p.Glu2Lys) in DCC (Netrin receptor DCC) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- ExAC rs779492300
- TOPMed rs779492300
- gnomAD rs779492300
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.31
- MetaLR 0.16
- MetaSVM -0.73
- CADD 29.50
- PolyPhen-2 0.90
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available