S27I (p.Ser27Ile) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
S27I (p.Ser27Ile) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. 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.
S27I (p.Ser27Ile) variant details
- p.Ser27Ile
- ExAC rs754042347
- gnomAD rs754042347
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.08
- CADD 23.10
- PolyPhen-2 0.24
- SIFT 0.07
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available