E160A (p.Glu160Ala) variant of PBRM1 (Protein polybromo-1)
E160A (p.Glu160Ala) in PBRM1 (Protein polybromo-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
E160A (p.Glu160Ala) variant details
- p.Glu160Ala
- UniProt VAR 064659
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. (PMID 21248752)