T39A (p.Thr39Ala) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
T39A (p.Thr39Ala) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
T39A (p.Thr39Ala) variant details
- p.Thr39Ala
- gnomAD 14-20345000-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.04
- AlphaMissense 0.11
- MetaLR 0.00
- MetaSVM -1.02
- CADD 8.83
- PolyPhen-2 0.00
- Population evidence available
- Structural context available
- Literature evidence available