T39I (p.Thr39Ile) variant of ABCG8 (Q9H221)
T39I (p.Thr39Ile) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
T39I (p.Thr39Ile) variant details
- p.Thr39Ile
- ExAC rs749860873
- gnomAD rs749860873
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.62
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available