A54T (p.Ala54Thr) variant of HBD (Hemoglobin subunit delta)
A54T (p.Ala54Thr) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
A54T (p.Ala54Thr) variant details
- p.Ala54Thr
- cosmic curated COSV53082
- TOPMed rs1847708222
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.24
- MetaLR 0.90
- MetaSVM 0.99
- CADD 24.90
- Most common in the HGDP:YORUBA population (allele frequency 0.071)
- Structural context available