P70L (p.Pro70Leu) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
P70L (p.Pro70Leu) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
P70L (p.Pro70Leu) variant details
- p.Pro70Leu
- rs1883680140
- gnomAD 14-20345430-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.22
- CADD 27.50
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available