S47L (p.Ser47Leu) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
S47L (p.Ser47Leu) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S47L (p.Ser47Leu) variant details
- p.Ser47Leu
- gnomAD 14-20345025-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.09
- CADD 2.31
- PolyPhen-2 0.00
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available