L7* (p.Leu7Ter) variant of B2M (Beta-2-microglobulin)
L7* (p.Leu7Ter) in B2M (Beta-2-microglobulin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes structural context.
L7* (p.Leu7Ter) variant details
- p.Leu7Ter
- rs2086865732
- gnomAD rs2086865732
- NCI-TCGA Cosmic COSV1008
- NCI-TCGA Cosmic COSV6256
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.302
- AlphaMissense 0.29
- MetaLR 0.01
- MetaSVM -0.94
- PolyPhen-2 0.88
- SIFT 0.08
- MutPred 0.66
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available