R147Q (p.Arg147Gln) variant of ABCG2 (Q9UNQ0)
R147Q (p.Arg147Gln) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
R147Q (p.Arg147Gln) variant details
- p.Arg147Gln
- ExAC rs780594297
- TOPMed rs780594297
- gnomAD rs780594297
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.55
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available