T56A (p.Thr56Ala) variant of PBRM1 (Protein polybromo-1)
T56A (p.Thr56Ala) in PBRM1 (Protein polybromo-1) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes experimental measurements, published literature, and structural context.
T56A (p.Thr56Ala) variant details
- p.Thr56Ala
- rs923060956
- UniProt VAR 064654
- Ensembl rs923060956
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- AlphaMissense 0.34
- MetaLR 0.04
- MetaSVM -1.02
- PolyPhen-2 0.01
- SIFT 0.25
- MutPred 0.54
- EBI: Benign
- UniProt: Benign
- Structural context available
- PBRM1 High mobility group box domain domainome 1.0: score -0.0945
- Cited in: Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. (PMID 21248752)