R40H (p.Arg40His) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
R40H (p.Arg40His) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R40H (p.Arg40His) variant details
- p.Arg40His
- rs747294136
- gnomAD 14-20345004-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.07
- CADD 15.20
- PolyPhen-2 0.81
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available