R45* (p.Arg45Ter) variant of TNFAIP3 (P21580)
R45* (p.Arg45Ter) in TNFAIP3 (P21580) 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 0.68 / 1. The record also includes population frequency data and structural context.
R45* (p.Arg45Ter) variant details
- p.Arg45Ter
- rs1173941971
- ClinGen CA365780410
- cosmic curated COSV52801
- ClinVar RCV001946977
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.684
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available