S27T (p.Ser27Thr) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
S27T (p.Ser27Thr) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S27T (p.Ser27Thr) variant details
- p.Ser27Thr
- ExAC rs754042347
- gnomAD rs754042347
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.04
- CADD 21.90
- PolyPhen-2 0.03
- SIFT 0.33
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available