I70F (p.Ile70Phe) variant of ABCG2 (Q9UNQ0)
I70F (p.Ile70Phe) in ABCG2 (Q9UNQ0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. 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.
I70F (p.Ile70Phe) variant details
- p.Ile70Phe
- TOPMed rs781446745
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.38
- CADD 23.80
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available