L15I (p.Leu15Ile) variant of ABCG5 (Q9H222)
L15I (p.Leu15Ile) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L15I (p.Leu15Ile) variant details
- p.Leu15Ile
- rs372312214
- ClinGen CA46426251
- ClinVar RCV002571925
- ESP rs372312214
- Uncertain significance
- Sitosterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- AlphaMissense 0.07
- MetaLR 0.46
- MetaSVM -0.65
- CADD 3.01
- PolyPhen-2 0.01
- SIFT 0.28
- ClinVar: Uncertain significance (Sitosterolemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)