Y54C (p.Tyr54Cys) variant of PBRM1 (Protein polybromo-1)
Y54C (p.Tyr54Cys) 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, experimental measurements, and structural context.
Y54C (p.Tyr54Cys) variant details
- p.Tyr54Cys
- NCI-TCGA Cosmic COSV5627
- cosmic curated COSV56274
- Ensembl rs2154058313
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.58
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- PBRM1 High mobility group box domain domainome 1.0: score -0.103