C24R (p.Cys24Arg) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
C24R (p.Cys24Arg) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
C24R (p.Cys24Arg) variant details
- p.Cys24Arg
- Ensembl rs1665184321
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.82
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available