R34Q (p.Arg34Gln) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
R34Q (p.Arg34Gln) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
R34Q (p.Arg34Gln) variant details
- p.Arg34Gln
- ExAC rs762258231
- gnomAD rs762258231
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.82
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available