I68F (p.Ile68Phe) variant of ABCG5 (Q9H222)
I68F (p.Ile68Phe) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
I68F (p.Ile68Phe) variant details
- p.Ile68Phe
- TOPMed rs1403673533
- gnomAD rs1403673533
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- CADD 24.00
- PolyPhen-2 0.73
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available