Y144F (p.Tyr144Phe) variant of PBRM1 (Protein polybromo-1)
Y144F (p.Tyr144Phe) 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 0.34 / 1. The record also includes published literature and structural context.
Y144F (p.Tyr144Phe) variant details
- p.Tyr144Phe
- rs2153927262
- UniProt VAR 064658
- Ensembl rs2153927262
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- AlphaMissense 0.24
- MetaLR 0.06
- MetaSVM -1.11
- PolyPhen-2 1.00
- SIFT 0.88
- MutPred 0.51
- EBI: Benign
- UniProt: Benign
- Structural context available
- Cited in: Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. (PMID 21248752)