R66G (p.Arg66Gly) variant of PBRM1 (Protein polybromo-1)
R66G (p.Arg66Gly) 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.
R66G (p.Arg66Gly) variant details
- p.Arg66Gly
- rs368888772
- UniProt VAR 064656
- ESP rs368888772
- ExAC rs368888772
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.45
- CADD 26.60
- PolyPhen-2 0.97
- SIFT 0.01
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. (PMID 21248752)