R54Q (p.Arg54Gln) variant of RAD21 (O60216)
R54Q (p.Arg54Gln) in RAD21 (O60216) 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 0.77 / 1. The record also includes population frequency data.
R54Q (p.Arg54Gln) variant details
- p.Arg54Gln
- rs1563692624
- NCI-TCGA Cosmic COSV5205
- NCI-TCGA Cosmic COSV5206
- Ensembl rs1563692624
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.74
- CADD 30.00
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available