A3T (p.Ala3Thr) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
A3T (p.Ala3Thr) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- gnomAD 14-20343648-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.03
- CADD 9.98
- PolyPhen-2 0.00
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available