M1T (p.Met1Thr) variant of ABCG8 (Q9H221)
M1T (p.Met1Thr) in ABCG8 (Q9H221) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Sitosterolemia 1; not provided. The record also includes population frequency data, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs538699999
- ClinGen CA1636850
- ClinVar RCV002224309
- ClinVar RCV002466278
- Conflicting interpretations
- Sitosterolemia 1; not provided
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Sitosterolemia 1; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)