L15V (p.Leu15Val) variant of ABCG5 (Q9H222)
L15V (p.Leu15Val) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Sitosterolemia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L15V (p.Leu15Val) variant details
- p.Leu15Val
- rs372312214
- ClinGen CA1636812
- ClinVar RCV000350361
- ClinVar RCV002328782
- Uncertain significance
- Cardiovascular phenotype; Sitosterolemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- AlphaMissense 0.07
- MetaLR 0.46
- MetaSVM -0.65
- CADD 1.54
- PolyPhen-2 0.01
- SIFT 0.28
- ClinVar: Uncertain significance (Cardiovascular phenotype; Sitosterolemia; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)