D72G (p.Asp72Gly) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
D72G (p.Asp72Gly) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
D72G (p.Asp72Gly) variant details
- p.Asp72Gly
- ESP rs147105590
- ExAC rs147105590
- TOPMed rs147105590
- gnomAD rs147105590
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.11
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available