D100E (p.Asp100Glu) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
D100E (p.Asp100Glu) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
D100E (p.Asp100Glu) variant details
- p.Asp100Glu
- TOPMed rs1194997553
- gnomAD rs1194997553
- Missense
- Variant Prioritization Score for Impact Estimate 0.0623
- REVEL 0.04
- CADD 2.18
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available