R78Q (p.Arg78Gln) variant of PBRM1 (Protein polybromo-1)
R78Q (p.Arg78Gln) in PBRM1 (Protein polybromo-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R78Q (p.Arg78Gln) variant details
- p.Arg78Gln
- cosmic curated COSV56314
- ExAC rs755035966
- TOPMed rs755035966
- gnomAD rs755035966
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.32
- CADD 29.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available