G89D (p.Gly89Asp) variant of ABCG5 (Q9H222)
G89D (p.Gly89Asp) 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 0.89 / 1. The record also includes population frequency data and structural context.
G89D (p.Gly89Asp) variant details
- p.Gly89Asp
- gnomAD rs886056031
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.94
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available