P30L (p.Pro30Leu) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
P30L (p.Pro30Leu) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
P30L (p.Pro30Leu) variant details
- p.Pro30Leu
- gnomAD 14-20344974-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.05
- CADD 7.31
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available