Y121* (p.Tyr121Ter) variant of SPI1 (Transcription factor PU.1)
Y121* (p.Tyr121Ter) in SPI1 (Transcription factor PU.1) 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
Y121* (p.Tyr121Ter) variant details
- p.Tyr121Ter
- rs2095916574
- ClinGen CA380351832
- ClinVar RCV001822090
- ClinVar RCV005232672
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.663
- AlphaMissense 0.95
- MetaLR 0.38
- MetaSVM -0.01
- CADD 36.00
- SIFT 0.03
- EVE 0.21
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients. (PMID 33951726)