Q8* (p.Gln8Ter) variant of TNFAIP3 (P21580)
Q8* (p.Gln8Ter) in TNFAIP3 (P21580) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes structural context.
Q8* (p.Gln8Ter) variant details
- p.Gln8Ter
- rs1461832435
- ClinGen CA365779383
- cosmic curated COSV52799
- ClinVar RCV001329556
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.332
- AlphaMissense 0.09
- MetaLR 0.03
- MetaSVM -1.11
- PolyPhen-2 0.06
- SIFT 0.03
- EVE 0.64
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available