R34G (p.Arg34Gly) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
R34G (p.Arg34Gly) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
R34G (p.Arg34Gly) variant details
- p.Arg34Gly
- Ensembl rs2102750262
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.73
- CADD 31.00
- PolyPhen-2 0.72
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available