R53Q (p.Arg53Gln) variant of DCC (Netrin receptor DCC)
R53Q (p.Arg53Gln) in DCC (Netrin receptor DCC) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
R53Q (p.Arg53Gln) variant details
- p.Arg53Gln
- rs768831554
- NCI-TCGA Cosmic COSV5909
- cosmic curated COSV59091
- ExAC rs768831554
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.12
- CADD 23.10
- PolyPhen-2 0.28
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available