G54R (p.Gly54Arg) variant of DCC (Netrin receptor DCC)
G54R (p.Gly54Arg) in DCC (Netrin receptor DCC) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
G54R (p.Gly54Arg) variant details
- p.Gly54Arg
- cosmic curated COSV10517
- gnomAD rs1355008328
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.50
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available