D31N (p.Asp31Asn) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
D31N (p.Asp31Asn) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
D31N (p.Asp31Asn) variant details
- p.Asp31Asn
- cosmic curated COSV64687
- ExAC rs756350417
- TOPMed rs756350417
- gnomAD rs756350417
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.15
- CADD 25.60
- PolyPhen-2 0.23
- SIFT 0.05
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available