R6Q (p.Arg6Gln) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
R6Q (p.Arg6Gln) 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.
R6Q (p.Arg6Gln) variant details
- p.Arg6Gln
- rs762731089
- gnomAD 14-20343658-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.06
- AlphaMissense 0.25
- MetaLR 0.03
- MetaSVM -1.03
- CADD 19.80
- PolyPhen-2 0.98
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available