E7K (p.Glu7Lys) variant of ABCG2 (Q9UNQ0)
E7K (p.Glu7Lys) 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 0.24 / 1. The record also includes population frequency data and structural context.
E7K (p.Glu7Lys) variant details
- p.Glu7Lys
- rs1272411168
- NCI-TCGA Cosmic COSV5294
- cosmic curated COSV52948
- TOPMed rs1272411168
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.24
- CADD 12.90
- PolyPhen-2 0.00
- SIFT 0.39
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available