R7Q (p.Arg7Gln) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
R7Q (p.Arg7Gln) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
R7Q (p.Arg7Gln) variant details
- p.Arg7Gln
- rs754797447
- NCI-TCGA Cosmic COSV5164
- cosmic curated COSV51640
- NCI-TCGA Cosmic COSV9916
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- REVEL 0.05
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.38
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available