S55T (p.Ser55Thr) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
S55T (p.Ser55Thr) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
S55T (p.Ser55Thr) variant details
- p.Ser55Thr
- ExAC rs781263314
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.03
- CADD 18.50
- PolyPhen-2 0.04
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available