S5W (p.Ser5Trp) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
S5W (p.Ser5Trp) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of PARP1-related disorder. 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.
S5W (p.Ser5Trp) variant details
- p.Ser5Trp
- rs201256399
- ClinGen CA1423351
- ClinVar RCV003904350
- 1000Genomes rs201256399
- Likely benign
- PARP1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.10
- CADD 24.00
- PolyPhen-2 0.34
- SIFT 0.01
- ClinVar: Likely benign (PARP1-related disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available