T8I (p.Thr8Ile) variant of ABCG5 (Q9H222)
T8I (p.Thr8Ile) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Sitosterolemia 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
T8I (p.Thr8Ile) variant details
- p.Thr8Ile
- ExAC rs757846931
- TOPMed rs757846931
- gnomAD rs757846931
- Uncertain significance
- Sitosterolemia 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- CADD 3.05
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (Sitosterolemia 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available