R56Q (p.Arg56Gln) variant of ABCG2 (Q9UNQ0)
R56Q (p.Arg56Gln) in ABCG2 (Q9UNQ0) 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 0.26 / 1. The record also includes population frequency data and structural context.
R56Q (p.Arg56Gln) variant details
- p.Arg56Gln
- rs543249891
- NCI-TCGA Cosmic COSV5294
- cosmic curated COSV52943
- 1000Genomes rs543249891
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.15
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 0.27
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available