G73E (p.Gly73Glu) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
G73E (p.Gly73Glu) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
G73E (p.Gly73Glu) variant details
- p.Gly73Glu
- Ensembl rs2102747162
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.79
- CADD 23.70
- PolyPhen-2 0.96
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available