S5L (p.Ser5Leu) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
S5L (p.Ser5Leu) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
S5L (p.Ser5Leu) variant details
- p.Ser5Leu
- 1000Genomes rs201256399
- ExAC rs201256399
- TOPMed rs201256399
- gnomAD rs201256399
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.07
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.19
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available