R33G (p.Arg33Gly) variant of PBRM1 (Protein polybromo-1)
R33G (p.Arg33Gly) in PBRM1 (Protein polybromo-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R33G (p.Arg33Gly) variant details
- p.Arg33Gly
- cosmic curated COSV56282
- TOPMed rs1296531217
- gnomAD rs1296531217
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.21
- CADD 26.40
- PolyPhen-2 0.17
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 0.00059)
- Structural context available
- PBRM1 High mobility group box domain domainome 1.0: score -0.0949