Q82E (p.Gln82Glu) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
Q82E (p.Gln82Glu) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
Q82E (p.Gln82Glu) variant details
- p.Gln82Glu
- TOPMed rs1222634275
- gnomAD rs1222634275
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.58
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available