T39I (p.Thr39Ile) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
T39I (p.Thr39Ile) 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.
T39I (p.Thr39Ile) variant details
- p.Thr39Ile
- gnomAD 14-20345001-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.03
- AlphaMissense 0.18
- MetaLR 0.00
- MetaSVM -1.08
- CADD 5.34
- PolyPhen-2 0.01
- Population evidence available
- Structural context available
- Literature evidence available