V47L (p.Val47Leu) variant of ABCG5 (Q9H222)
V47L (p.Val47Leu) 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 2; Sitosterolemia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
V47L (p.Val47Leu) variant details
- p.Val47Leu
- rs72542426
- ClinGen CA1636792
- ClinVar RCV001136897
- ClinVar RCV002393364
- Uncertain significance
- Cardiovascular phenotype; Sitosterolemia 2; Sitosterolemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- CADD 13.20
- PolyPhen-2 0.05
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Sitosterolemia 2; Sitosterolemia 1)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)