T13I (p.Thr13Ile) variant of HBB (Hemoglobin subunit beta)
T13I (p.Thr13Ile) in HBB (Hemoglobin subunit beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
T13I (p.Thr13Ile) variant details
- p.Thr13Ile
- gnomAD 11-5226984-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.55
- ESM-1b 0.29
- AlphaMissense 0.16
- MetaLR 0.68
- MetaSVM 0.02
- CADD 0.03
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available