A23T (p.Ala23Thr) variant of HBD (Hemoglobin subunit delta)
A23T (p.Ala23Thr) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- gnomAD 11-5234367-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.52
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.38
- MetaSVM -0.63
- CADD 12.50
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available