Q141E (p.Gln141Glu) variant of ABCG2 (Q9UNQ0)
Q141E (p.Gln141Glu) 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 0.28 / 1. The record also includes population frequency data and structural context.
Q141E (p.Gln141Glu) variant details
- p.Gln141Glu
- 1000Genomes rs2231142
- ESP rs2231142
- ExAC rs2231142
- TOPMed rs2231142
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.06
- CADD 16.40
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available