R45Q (p.Arg45Gln) variant of REL (Proto-oncogene c-Rel)
R45Q (p.Arg45Gln) in REL (Proto-oncogene c-Rel) 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 0.43 / 1. The record also includes population frequency data and structural context.
R45Q (p.Arg45Gln) variant details
- p.Arg45Gln
- rs1456684871
- NCI-TCGA Cosmic COSV5436
- cosmic curated COSV54362
- gnomAD rs1456684871
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.26
- MetaLR 0.20
- MetaSVM -0.73
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available