R147W (p.Arg147Trp) variant of ABCG2 (Q9UNQ0)
R147W (p.Arg147Trp) in ABCG2 (Q9UNQ0) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R147W (p.Arg147Trp) variant details
- p.Arg147Trp
- rs372192400
- cosmic curated COSV52942
- UniProt VAR 082302
- ESP rs372192400
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.63
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available
- Cited in: Functional Characterization of Clinically-Relevant Rare Variants in ABCG2 Identified in a Gout and Hyperuricemia Cohort. (PMID 31003562)
- Cited in: Cellular expression and function of naturally occurring variants of the human ABCG2 multidrug transporter. (PMID 31254042)