M1V (p.Met1Val) variant of ABCG5 (Q9H222)
M1V (p.Met1Val) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Sitosterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs755998551
- ClinGen CA1636827
- ClinVar RCV003612382
- Uncertain significance
- Sitosterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- MetaLR 0.56
- MetaSVM -0.02
- PolyPhen-2 0.06
- SIFT 0.03
- MutPred 0.99
- ClinVar: Uncertain significance (Sitosterolemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)