G11E (p.Gly11Glu) variant of BAX (Apoptosis regulator BAX)
G11E (p.Gly11Glu) in BAX (Apoptosis regulator BAX) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in a plasmacytoma cell line. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
G11E (p.Gly11Glu) variant details
- p.Gly11Glu
- rs555248599
- cosmic curated COSV99509
- UniProt VAR 013575
- 1000Genomes rs555248599
- Benign
- in a plasmacytoma cell line
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.07
- CADD 25.20
- PolyPhen-2 0.25
- SIFT 0.02
- EBI: Benign (in a plasmacytoma cell line)
- UniProt: Benign (in a plasmacytoma cell line)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Hematopoietic malignancies demonstrate loss-of-function mutations of BAX. (PMID 9531611)