Q90E (p.Gln90Glu) variant of PBRM1 (Protein polybromo-1)
Q90E (p.Gln90Glu) in PBRM1 (Protein polybromo-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
Q90E (p.Gln90Glu) variant details
- p.Gln90Glu
- UniProt VAR 064657
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.22
- CADD 23.20
- PolyPhen-2 0.56
- SIFT 0.27
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Cited in: Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. (PMID 21248752)