D100N (p.Asp100Asn) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
D100N (p.Asp100Asn) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
D100N (p.Asp100Asn) variant details
- p.Asp100Asn
- TOPMed rs1447523073
- gnomAD rs1447523073
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.05
- CADD 12.60
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available