A19S (p.Ala19Ser) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
A19S (p.Ala19Ser) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A19S (p.Ala19Ser) variant details
- p.Ala19Ser
- ExAC rs747988833
- gnomAD rs747988833
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.14
- CADD 23.60
- PolyPhen-2 0.47
- SIFT 0.50
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available