Q141K (p.Gln141Lys) variant of ABCG2 (Q9UNQ0)
Q141K (p.Gln141Lys) in ABCG2 (Q9UNQ0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as drug response in the context of rosuvastatin response - Efficacy; rosuvastatin response - Metabolism/PK. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Q141K (p.Gln141Lys) variant details
- p.Gln141Lys
- rs2231142
- Civic 260
- ClinGen CA129179
- cosmic curated COSV52943
- drug response
- rosuvastatin response - Efficacy; rosuvastatin response - Metabolism/PK
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.11
- CADD 19.70
- PolyPhen-2 0.22
- SIFT 0.19
- ClinVar: drug response (rosuvastatin response - Efficacy; rosuvastatin response - Metabo)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:SURUI population (allele frequency 0.71)
- Structural context available
- Cited in: Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters… (PMID 12111378)
- Cited in: Natural allelic variants of breast cancer resistance protein (BCRP) and their relationship to BCRP expression in human… (PMID 12544509)