C42Y (p.Cys42Tyr) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
C42Y (p.Cys42Tyr) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
C42Y (p.Cys42Tyr) variant details
- p.Cys42Tyr
- rs749038617
- gnomAD 14-20345010-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.05
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.43
- Population evidence available
- Structural context available
- Literature evidence available