D45H (p.Asp45His) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
D45H (p.Asp45His) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
D45H (p.Asp45His) variant details
- p.Asp45His
- TOPMed rs946978561
- gnomAD rs946978561
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.64
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available