Y102* (p.Tyr102Ter) variant of TNFRSF13B (O14836)
Y102* (p.Tyr102Ter) in TNFRSF13B (O14836) 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 0.32 / 1. The record also includes population frequency data.
Y102* (p.Tyr102Ter) variant details
- p.Tyr102Ter
- rs774955611
- ClinGen CA8414043
- ClinVar RCV002765802
- ExAC rs774955611
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.321
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)