S32L (p.Ser32Leu) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
S32L (p.Ser32Leu) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
S32L (p.Ser32Leu) variant details
- p.Ser32Leu
- ExAC rs750681422
- TOPMed rs750681422
- gnomAD rs750681422
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.42
- CADD 32.00
- PolyPhen-2 0.56
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available