V47I (p.Val47Ile) variant of ABCG5 (Q9H222)
V47I (p.Val47Ile) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Sitosterolemia 2; Sitosterolemia; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
V47I (p.Val47Ile) variant details
- p.Val47Ile
- rs72542426
- ClinGen CA1636793
- cosmic curated COSV53209
- ClinVar RCV000731084
- Conflicting interpretations
- Sitosterolemia 2; Sitosterolemia; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- CADD 6.57
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Conflicting classifications of pathogenicity (Sitosterolemia 2; Sitosterolemia; Cardiovascular phenotype)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)