C54* (p.Cys54Ter) variant of PDCD1 (Programmed cell death protein 1)
C54* (p.Cys54Ter) in PDCD1 (Programmed cell death protein 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
C54* (p.Cys54Ter) variant details
- p.Cys54Ter
- TOPMed rs1291136724
- gnomAD rs1291136724
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.671
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available