R202C (p.Arg202Cys) variant of PBRM1 (Protein polybromo-1)
R202C (p.Arg202Cys) 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R202C (p.Arg202Cys) variant details
- p.Arg202Cys
- rs765525545
- NCI-TCGA Cosmic COSV5629
- cosmic curated COSV56298
- UniProt VAR 064660
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.40
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. (PMID 21248752)