V39L (p.Val39Leu) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
V39L (p.Val39Leu) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
V39L (p.Val39Leu) variant details
- p.Val39Leu
- ESP rs142025196
- ExAC rs142025196
- TOPMed rs142025196
- gnomAD rs142025196
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.23
- CADD 24.80
- PolyPhen-2 0.62
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available