V17G (p.Val17Gly) variant of ABCG5 (Q9H222)
V17G (p.Val17Gly) 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; not specified; Sitosterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
V17G (p.Val17Gly) variant details
- p.Val17Gly
- rs72542427
- ClinGen CA1636811
- ClinVar RCV000393828
- ClinVar RCV000892629
- Conflicting interpretations
- Sitosterolemia 2; not specified; Sitosterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.0527
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Conflicting classifications of pathogenicity (Sitosterolemia 2; not specified; Sitosterolemia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ESN population (allele frequency 0.024)
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)