R40L (p.Arg40Leu) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
R40L (p.Arg40Leu) 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.
R40L (p.Arg40Leu) variant details
- p.Arg40Leu
- gnomAD 14-20345004-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.03
- CADD 9.78
- PolyPhen-2 0.29
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available