Q80* (p.Gln80Ter) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
Q80* (p.Gln80Ter) in CTLA4 (Cytotoxic T-lymphocyte protein 4) 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.
Q80* (p.Gln80Ter) variant details
- p.Gln80Ter
- rs1688714703
- ClinGen CA350138355
- ClinVar RCV001997536
- TOPMed rs1688714703
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.301
- AlphaMissense 0.07
- MetaLR 0.10
- MetaSVM -1.04
- PolyPhen-2 0.01
- SIFT 0.24
- EVE 0.21
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available