F57L (p.Phe57Leu) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
F57L (p.Phe57Leu) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
F57L (p.Phe57Leu) variant details
- p.Phe57Leu
- Ensembl rs1262677082
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.63
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available