E105Q (p.Glu105Gln) variant of PBRM1 (Protein polybromo-1)
E105Q (p.Glu105Gln) in PBRM1 (Protein polybromo-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
E105Q (p.Glu105Gln) variant details
- p.Glu105Gln
- NCI-TCGA Cosmic COSV5626
- NCI-TCGA Cosmic COSV9996
- cosmic curated COSV99968
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.19
- CADD 25.10
- PolyPhen-2 0.94
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available