T39S (p.Thr39Ser) variant of ABCG8 (Q9H221)
T39S (p.Thr39Ser) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
T39S (p.Thr39Ser) variant details
- p.Thr39Ser
- ExAC rs749860873
- gnomAD rs749860873
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.46
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available