F43S (p.Phe43Ser) variant of HBD (Hemoglobin subunit delta)
F43S (p.Phe43Ser) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
F43S (p.Phe43Ser) variant details
- p.Phe43Ser
- ExAC rs755109846
- gnomAD rs755109846
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.01
- CADD 29.30
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available