S63F (p.Ser63Phe) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
S63F (p.Ser63Phe) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
S63F (p.Ser63Phe) variant details
- p.Ser63Phe
- cosmic curated COSV10468
- TOPMed rs1422347543
- gnomAD rs1422347543
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.07
- CADD 22.30
- PolyPhen-2 0.15
- SIFT 0.05
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available