E2A (p.Glu2Ala) variant of DCC (Netrin receptor DCC)
E2A (p.Glu2Ala) in DCC (Netrin receptor DCC) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
E2A (p.Glu2Ala) variant details
- p.Glu2Ala
- ExAC rs768588905
- gnomAD rs768588905
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.23
- MetaLR 0.15
- MetaSVM -0.76
- CADD 28.10
- PolyPhen-2 0.90
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available