A14T (p.Ala14Thr) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
A14T (p.Ala14Thr) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.03 / 1. The record also includes population frequency data, published literature, and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- rs1347928953
- gnomAD 14-20343681-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0327
- REVEL 0.00
- CADD 1.82
- PolyPhen-2 0.01
- SIFT 0.33
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available