T13L (p.Thr13Leu) variant of HBB (Hemoglobin subunit beta)
T13L (p.Thr13Leu) in HBB (Hemoglobin subunit beta) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
T13L (p.Thr13Leu) variant details
- p.Thr13Leu
- rs34856846
- gnomAD 11-5226985-TA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.173
- CADD 13.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available