R113Q (p.Arg113Gln) variant of ABCG2 (Q9UNQ0)
R113Q (p.Arg113Gln) 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 0.15 / 1. The record also includes population frequency data and structural context.
R113Q (p.Arg113Gln) variant details
- p.Arg113Gln
- rs755591361
- NCI-TCGA Cosmic COSV5294
- cosmic curated COSV52944
- ExAC rs755591361
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.16
- CADD 7.65
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available