L41V (p.Leu41Val) variant of ABCG5 (Q9H222)
L41V (p.Leu41Val) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Sitosterolemia; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L41V (p.Leu41Val) variant details
- p.Leu41Val
- rs1030894919
- ClinGen CA46426095
- ClinVar RCV001761283
- ClinVar RCV002540441
- Uncertain significance
- not provided; Sitosterolemia; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- CADD 8.79
- PolyPhen-2 0.03
- SIFT 0.54
- ClinVar: Uncertain significance (not provided; Sitosterolemia; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)