R65Q (p.Arg65Gln) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
R65Q (p.Arg65Gln) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
R65Q (p.Arg65Gln) variant details
- p.Arg65Gln
- cosmic curated COSV10082
- ExAC rs773909453
- gnomAD rs773909453
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.03
- CADD 18.30
- PolyPhen-2 0.02
- SIFT 0.68
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available