T94M (p.Thr94Met) variant of ABCG5 (Q9H222)
T94M (p.Thr94Met) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Sitosterolemia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
T94M (p.Thr94Met) variant details
- p.Thr94Met
- rs558993616
- ClinGen CA346668290
- ClinVar RCV001143472
- ExAC rs558993616
- Uncertain significance
- Sitosterolemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.77
- CADD 32.00
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (Sitosterolemia 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)