E7D (p.Glu7Asp) variant of ABCG2 (Q9UNQ0)
E7D (p.Glu7Asp) in ABCG2 (Q9UNQ0) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
E7D (p.Glu7Asp) variant details
- p.Glu7Asp
- rs747453638
- NCI-TCGA Cosmic COSV9941
- cosmic curated COSV99418
- ExAC rs747453638
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.15
- CADD 6.83
- PolyPhen-2 0.01
- SIFT 0.28
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available