G17R (p.Gly17Arg) variant of PBRM1 (Protein polybromo-1)
G17R (p.Gly17Arg) 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 0.52 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G17R (p.Gly17Arg) variant details
- p.Gly17Arg
- rs764436452
- NCI-TCGA Cosmic COSV9904
- cosmic curated COSV99046
- ExAC rs764436452
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.32
- CADD 24.30
- PolyPhen-2 0.97
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- PBRM1 High mobility group box domain domainome 1.0: score -0.372