S75P (p.Ser75Pro) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
S75P (p.Ser75Pro) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
S75P (p.Ser75Pro) variant details
- p.Ser75Pro
- 1000Genomes rs182219056
- ExAC rs182219056
- TOPMed rs182219056
- gnomAD rs182219056
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.06
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.25
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available