A28P (p.Ala28Pro) variant of ABCG5 (Q9H222)
A28P (p.Ala28Pro) in ABCG5 (Q9H222) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
A28P (p.Ala28Pro) variant details
- p.Ala28Pro
- TOPMed rs980495592
- gnomAD rs980495592
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- CADD 13.30
- PolyPhen-2 0.09
- SIFT 0.27
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available