G171D (p.Gly171Asp) variant of PBRM1 (Protein polybromo-1)
G171D (p.Gly171Asp) 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 0.36 / 1. The record also includes population frequency data and structural context.
G171D (p.Gly171Asp) variant details
- p.Gly171Asp
- rs758198630
- NCI-TCGA Cosmic COSV5631
- ExAC rs758198630
- TOPMed rs758198630
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.08
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available