R58Q (p.Arg58Gln) variant of PBRM1 (Protein polybromo-1)
R58Q (p.Arg58Gln) in PBRM1 (Protein polybromo-1) 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 0.52 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R58Q (p.Arg58Gln) variant details
- p.Arg58Gln
- rs1402616012
- NCI-TCGA Cosmic COSV9996
- cosmic curated COSV99968
- gnomAD rs1402616012
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.33
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- PBRM1 High mobility group box domain domainome 1.0: score -0.101