S20F (p.Ser20Phe) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
S20F (p.Ser20Phe) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S20F (p.Ser20Phe) variant details
- p.Ser20Phe
- ExAC rs778958457
- gnomAD rs778958457
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.35
- CADD 32.00
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available