R78W (p.Arg78Trp) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
R78W (p.Arg78Trp) in PARP1 (Poly [ADP-ribose] polymerase 1) 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 0.52 / 1. The record also includes population frequency data and structural context.
R78W (p.Arg78Trp) variant details
- p.Arg78Trp
- rs770918209
- NCI-TCGA Cosmic COSV6468
- cosmic curated COSV64687
- ExAC rs770918209
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.58
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available