R19I (p.Arg19Ile) variant of ABCG5 (Q9H222)
R19I (p.Arg19Ile) 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 0.58 / 1. The record also includes population frequency data and structural context.
R19I (p.Arg19Ile) variant details
- p.Arg19Ile
- 1000Genomes rs745875586
- ExAC rs745875586
- TOPMed rs745875586
- gnomAD rs745875586
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- AlphaMissense 0.08
- MetaLR 0.45
- MetaSVM -0.59
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available