A98T (p.Ala98Thr) variant of ABCG5 (Q9H222)
A98T (p.Ala98Thr) in ABCG5 (Q9H222) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
A98T (p.Ala98Thr) variant details
- p.Ala98Thr
- ExAC rs781194036
- gnomAD rs781194036
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.70
- CADD 26.50
- PolyPhen-2 0.92
- SIFT 0.04
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available