V12E (p.Val12Glu) variant of ABCG2 (Q9UNQ0)
V12E (p.Val12Glu) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
V12E (p.Val12Glu) variant details
- p.Val12Glu
- ExAC rs779729082
- TOPMed rs779729082
- gnomAD rs779729082
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.29
- CADD 23.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available