Q43R (p.Gln43Arg) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
Q43R (p.Gln43Arg) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
Q43R (p.Gln43Arg) variant details
- p.Gln43Arg
- rs1883659127
- gnomAD 14-20345013-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.08
- CADD 12.10
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available