G27A (p.Gly27Ala) variant of ABCG5 (Q9H222)
G27A (p.Gly27Ala) 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; Cardiovascular phenotype; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
G27A (p.Gly27Ala) variant details
- p.Gly27Ala
- rs56204478
- ClinGen CA1636806
- ClinVar RCV000384239
- ClinVar RCV000852225
- Conflicting interpretations
- Sitosterolemia 1; Cardiovascular phenotype; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- CADD 3.43
- PolyPhen-2 0.00
- SIFT 0.47
- ClinVar: Conflicting classifications of pathogenicity (Sitosterolemia 1; Cardiovascular phenotype; not specified)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)