Y9C (p.Tyr9Cys) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
Y9C (p.Tyr9Cys) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
Y9C (p.Tyr9Cys) variant details
- p.Tyr9Cys
- cosmic curated COSV64687
- ExAC rs770635699
- TOPMed rs770635699
- gnomAD rs770635699
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.41
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available