T5I (p.Thr5Ile) variant of HBB (Hemoglobin subunit beta)
T5I (p.Thr5Ile) in HBB (Hemoglobin subunit beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
T5I (p.Thr5Ile) variant details
- p.Thr5Ile
- gnomAD 11-5227008-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.49
- ESM-1b 1.00
- AlphaMissense 0.71
- MetaLR 0.73
- MetaSVM 0.03
- CADD 6.03
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available
- Literature evidence available