R53W (p.Arg53Trp) variant of DCC (Netrin receptor DCC)
R53W (p.Arg53Trp) 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 0.33 / 1. The record also includes population frequency data and structural context.
R53W (p.Arg53Trp) variant details
- p.Arg53Trp
- rs749558240
- NCI-TCGA Cosmic COSV5909
- cosmic curated COSV59091
- NCI-TCGA Cosmic COSV5910
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.28
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available