T16A (p.Thr16Ala) variant of ABCG8 (Q9H221)
T16A (p.Thr16Ala) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
T16A (p.Thr16Ala) variant details
- p.Thr16Ala
- TOPMed rs1189494830
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.20
- CADD 0.46
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available