Q43E (p.Gln43Glu) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
Q43E (p.Gln43Glu) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
Q43E (p.Gln43Glu) variant details
- p.Gln43Glu
- rs1883658966
- gnomAD 14-20345012-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.07
- CADD 6.70
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available