I81M (p.Ile81Met) variant of ABCG5 (Q9H222)
I81M (p.Ile81Met) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar, EBI, 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 0.59 / 1. The record also includes population frequency data and structural context.
I81M (p.Ile81Met) variant details
- p.Ile81Met
- ExAC rs766455908
- TOPMed rs766455908
- gnomAD rs766455908
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- CADD 15.30
- PolyPhen-2 0.36
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available