F74L (p.Phe74Leu) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
F74L (p.Phe74Leu) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
F74L (p.Phe74Leu) variant details
- p.Phe74Leu
- rs759516960
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10082
- ExAC rs759516960
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.23
- CADD 23.70
- PolyPhen-2 0.87
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available