L75F (p.Leu75Phe) variant of ABCG2 (Q9UNQ0)
L75F (p.Leu75Phe) 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 0.61 / 1. The record also includes population frequency data and structural context.
L75F (p.Leu75Phe) variant details
- p.Leu75Phe
- rs746782619
- cosmic curated COSV99420
- ExAC rs746782619
- TOPMed rs746782619
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.50
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available