S27R (p.Ser27Arg) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
S27R (p.Ser27Arg) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S27R (p.Ser27Arg) variant details
- p.Ser27Arg
- ExAC rs780414059
- gnomAD rs780414059
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.10
- CADD 23.00
- PolyPhen-2 0.24
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available