G80E (p.Gly80Glu) variant of ABCG2 (Q9UNQ0)
G80E (p.Gly80Glu) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
G80E (p.Gly80Glu) variant details
- p.Gly80Glu
- cosmic curated COSV52945
- 1000Genomes rs569310717
- ExAC rs569310717
- TOPMed rs569310717
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.98
- CADD 25.10
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the 1KG:PJL population (allele frequency 0.01)
- Structural context available