A89T (p.Ala89Thr) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
A89T (p.Ala89Thr) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A89T (p.Ala89Thr) variant details
- p.Ala89Thr
- TOPMed rs1024721663
- gnomAD rs1024721663
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.05
- CADD 21.50
- PolyPhen-2 0.21
- SIFT 0.02
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available