L15F (p.Leu15Phe) variant of ABCG5 (Q9H222)
L15F (p.Leu15Phe) 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 0.40 / 1. The record also includes published literature and structural context.
L15F (p.Leu15Phe) variant details
- p.Leu15Phe
- rs372312214
- ClinGen CA346662072
- ClinVar RCV002572686
- cosmic curated COSV53213
- Uncertain significance
- Sitosterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- AlphaMissense 0.07
- MetaLR 0.46
- MetaSVM -0.65
- PolyPhen-2 0.01
- SIFT 0.28
- ClinVar: Uncertain significance (Sitosterolemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)