S47* (p.Ser47Ter) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
S47* (p.Ser47Ter) in PARP2 (Poly [ADP-ribose] polymerase 2) is a protein-truncating change. 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.
S47* (p.Ser47Ter) variant details
- p.Ser47Ter
- gnomAD 14-20345025-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.659
- CADD 27.00
- Population evidence available
- Structural context available
- Literature evidence available