H50R (p.His50Arg) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
H50R (p.His50Arg) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
H50R (p.His50Arg) variant details
- p.His50Arg
- TOPMed rs1397984634
- gnomAD rs1397984634
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.15
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available