S32W (p.Ser32Trp) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
S32W (p.Ser32Trp) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
S32W (p.Ser32Trp) variant details
- p.Ser32Trp
- ExAC rs750681422
- TOPMed rs750681422
- gnomAD rs750681422
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.65
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available