M1T (p.Met1Thr) variant of ABCG5 (Q9H222)
M1T (p.Met1Thr) in ABCG5 (Q9H222) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs745785626
- ClinGen CA1636826
- ClinVar RCV001346003
- Conflicting interpretations
- Sitosterolemia 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- MetaLR 0.59
- MetaSVM 0.22
- PolyPhen-2 0.60
- SIFT 0.00
- MutPred 0.98
- ClinVar: Conflicting classifications of pathogenicity (Sitosterolemia 1; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)