V47F (p.Val47Phe) variant of ABCG5 (Q9H222)
V47F (p.Val47Phe) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Sitosterolemia 1; not provided; Sitosterolemia 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
V47F (p.Val47Phe) variant details
- p.Val47Phe
- rs72542426
- ClinGen CA1636791
- ClinVar RCV001136896
- ClinVar RCV001512079
- Conflicting interpretations
- Sitosterolemia 1; not provided; Sitosterolemia 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- CADD 17.90
- PolyPhen-2 0.48
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Sitosterolemia 1; not provided; Sitosterolemia 2)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.12)
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)