I81T (p.Ile81Thr) variant of ABCG5 (Q9H222)
I81T (p.Ile81Thr) 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; Sitosterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
I81T (p.Ile81Thr) variant details
- p.Ile81Thr
- rs1441999437
- ClinGen CA346661433
- ClinVar RCV002459877
- ClinVar RCV003101808
- Uncertain significance
- Cardiovascular phenotype; Sitosterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- CADD 20.70
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (Cardiovascular phenotype; Sitosterolemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)