R40C (p.Arg40Cys) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
R40C (p.Arg40Cys) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
R40C (p.Arg40Cys) variant details
- p.Arg40Cys
- rs780728837
- gnomAD 14-20345003-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.06
- CADD 17.90
- PolyPhen-2 0.02
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available