D128E (p.Asp128Glu) variant of ABCG2 (Q9UNQ0)
D128E (p.Asp128Glu) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
D128E (p.Asp128Glu) variant details
- p.Asp128Glu
- ESP rs375846189
- ExAC rs375846189
- TOPMed rs375846189
- gnomAD rs375846189
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.57
- CADD 22.50
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available