R78Q (p.Arg78Gln) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
R78Q (p.Arg78Gln) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R78Q (p.Arg78Gln) variant details
- p.Arg78Gln
- cosmic curated COSV64687
- ESP rs139202063
- ExAC rs139202063
- gnomAD rs139202063
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.44
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available