R40G (p.Arg40Gly) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
R40G (p.Arg40Gly) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R40G (p.Arg40Gly) variant details
- p.Arg40Gly
- rs780728837
- gnomAD 14-20345003-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.07
- CADD 15.80
- PolyPhen-2 0.44
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available