D81N (p.Asp81Asn) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
D81N (p.Asp81Asn) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
D81N (p.Asp81Asn) variant details
- p.Asp81Asn
- ExAC rs777908389
- gnomAD rs777908389
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.55
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available