A5T (p.Ala5Thr) variant of ABCG8 (Q9H221)
A5T (p.Ala5Thr) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- 1000Genomes rs201317673
- TOPMed rs201317673
- gnomAD rs201317673
- Missense
- Variant Prioritization Score for Impact Estimate 0.106
- REVEL 0.11
- CADD 4.99
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available