R45Q (p.Arg45Gln) variant of ABCG2 (Q9UNQ0)
R45Q (p.Arg45Gln) 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 0.18 / 1. The record also includes population frequency data and structural context.
R45Q (p.Arg45Gln) variant details
- p.Arg45Gln
- rs142634180
- cosmic curated COSV52943
- NCI-TCGA Cosmic COSV9941
- ESP rs142634180
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.09
- CADD 18.30
- PolyPhen-2 0.01
- SIFT 0.31
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- Structural context available