R10Q (p.Arg10Gln) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
R10Q (p.Arg10Gln) 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.
R10Q (p.Arg10Gln) variant details
- p.Arg10Gln
- ExAC rs746792662
- TOPMed rs746792662
- gnomAD rs746792662
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.05
- CADD 23.30
- PolyPhen-2 0.07
- SIFT 0.24
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available