F117L (p.Phe117Leu) variant of ABCG2 (Q9UNQ0)
F117L (p.Phe117Leu) 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 0.35 / 1. The record also includes population frequency data and structural context.
F117L (p.Phe117Leu) variant details
- p.Phe117Leu
- NCI-TCGA TCGA novel
- TOPMed rs1312055972
- gnomAD rs1312055972
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.30
- CADD 24.30
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available