T94R (p.Thr94Arg) variant of ABCG5 (Q9H222)
T94R (p.Thr94Arg) 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; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
T94R (p.Thr94Arg) variant details
- p.Thr94Arg
- rs558993616
- ClinGen CA1636717
- ClinVar RCV000275956
- ClinVar RCV001094755
- Uncertain significance
- Sitosterolemia 1; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.76
- CADD 31.00
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Sitosterolemia 1; Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)