C7R (p.Cys7Arg) variant of DCC (Netrin receptor DCC)
C7R (p.Cys7Arg) in DCC (Netrin receptor DCC) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
C7R (p.Cys7Arg) variant details
- p.Cys7Arg
- 1000Genomes rs547090648
- ExAC rs547090648
- TOPMed rs547090648
- gnomAD rs547090648
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.13
- MetaLR 0.07
- MetaSVM -1.02
- CADD 23.30
- PolyPhen-2 0.14
- SIFT 0.30
- Most common in the 1KG:IBS population (allele frequency 0.0049)
- Structural context available