G39D (p.Gly39Asp) variant of ABCG5 (Q9H222)
G39D (p.Gly39Asp) 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; not provided; Sitosterolemia 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G39D (p.Gly39Asp) variant details
- p.Gly39Asp
- rs371929020
- ClinGen CA1636799
- ClinVar RCV001307964
- ClinVar RCV002327681
- Uncertain significance
- Cardiovascular phenotype; not provided; Sitosterolemia 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- CADD 15.30
- PolyPhen-2 0.16
- SIFT 0.06
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Sitosterolemia 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00015)
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)