D81E (p.Asp81Glu) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
D81E (p.Asp81Glu) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
D81E (p.Asp81Glu) variant details
- p.Asp81Glu
- 1000Genomes rs1805404
- ESP rs1805404
- ExAC rs1805404
- TOPMed rs1805404
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.59
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available