L17V (p.Leu17Val) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
L17V (p.Leu17Val) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
L17V (p.Leu17Val) variant details
- p.Leu17Val
- gnomAD 14-20344934-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.03
- CADD 7.60
- PolyPhen-2 0.00
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available