Q95* (p.Gln95Ter) variant of TNFRSF13B (O14836)
Q95* (p.Gln95Ter) in TNFRSF13B (O14836) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data.
Q95* (p.Gln95Ter) variant details
- p.Gln95Ter
- ExAC rs549493928
- TOPMed rs549493928
- gnomAD rs549493928
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.864
- CADD 39.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)