F43L (p.Phe43Leu) variant of HBD (Hemoglobin subunit delta)
F43L (p.Phe43Leu) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
F43L (p.Phe43Leu) variant details
- p.Phe43Leu
- gnomAD rs1463947121
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.04
- CADD 22.80
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available