G55E (p.Gly55Glu) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
G55E (p.Gly55Glu) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
G55E (p.Gly55Glu) variant details
- p.Gly55Glu
- gnomAD 14-20345049-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.05
- CADD 7.74
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available