S55F (p.Ser55Phe) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
S55F (p.Ser55Phe) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
S55F (p.Ser55Phe) variant details
- p.Ser55Phe
- cosmic curated COSV10528
- ExAC rs757556995
- gnomAD rs757556995
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.41
- CADD 28.40
- PolyPhen-2 0.81
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available