G65D (p.Gly65Asp) variant of PBRM1 (Protein polybromo-1)
G65D (p.Gly65Asp) 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 0.61 / 1. The record also includes population frequency data and structural context.
G65D (p.Gly65Asp) variant details
- p.Gly65Asp
- NCI-TCGA TCGA novel
- Ensembl rs2154057651
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.47
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available