E206K (p.Glu206Lys) variant of PBRM1 (Protein polybromo-1)
E206K (p.Glu206Lys) in PBRM1 (Protein polybromo-1) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E206K (p.Glu206Lys) variant details
- p.Glu206Lys
- rs1359676390
- NCI-TCGA Cosmic COSV5626
- cosmic curated COSV56269
- UniProt VAR 064661
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.22
- CADD 23.90
- PolyPhen-2 0.91
- SIFT 0.28
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. (PMID 21248752)