T46A (p.Thr46Ala) variant of ABCG8 (Q9H221)
T46A (p.Thr46Ala) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
T46A (p.Thr46Ala) variant details
- p.Thr46Ala
- ExAC rs776356685
- gnomAD rs776356685
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.30
- CADD 18.90
- PolyPhen-2 0.11
- SIFT 0.24
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available