F54L (p.Phe54Leu) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
F54L (p.Phe54Leu) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
F54L (p.Phe54Leu) variant details
- p.Phe54Leu
- rs3738708
- UniProt VAR 050460
- TOPMed rs3738708
- gnomAD rs3738708
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.06
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available