Q43* (p.Gln43Ter) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
Q43* (p.Gln43Ter) in PARP2 (Poly [ADP-ribose] polymerase 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
Q43* (p.Gln43Ter) variant details
- p.Gln43Ter
- gnomAD 14-20345012-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.512
- CADD 33.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available