T28A (p.Thr28Ala) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
T28A (p.Thr28Ala) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
T28A (p.Thr28Ala) variant details
- p.Thr28Ala
- gnomAD 14-20344967-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0363
- REVEL 0.01
- CADD 0.41
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available