R4Q (p.Arg4Gln) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
R4Q (p.Arg4Gln) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R4Q (p.Arg4Gln) variant details
- p.Arg4Gln
- rs1883593229
- gnomAD 14-20343652-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.14
- CADD 17.10
- PolyPhen-2 0.90
- SIFT 0.24
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available