T16L (p.Thr16Leu) variant of ABCG8 (Q9H221)
T16L (p.Thr16Leu) in ABCG8 (Q9H221) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
T16L (p.Thr16Leu) variant details
- p.Thr16Leu
- gnomAD 2-43839096-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.228
- CADD 20.80
- Most common in the Non-Finnish European population (allele frequency 4.6e-06)
- Structural context available
- Literature evidence available