I57V (p.Ile57Val) variant of ABCG5 (Q9H222)
I57V (p.Ile57Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
I57V (p.Ile57Val) variant details
- p.Ile57Val
- ESP rs144206840
- TOPMed rs144206840
- gnomAD rs144206840
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.0743
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.91
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available