C120L (p.Cys120Leu) variant of TNFRSF9 (Q07011)
C120L (p.Cys120Leu) in TNFRSF9 (Q07011) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
C120L (p.Cys120Leu) variant details
- p.Cys120Leu
- gnomAD 1-7937742-AAC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available