R41M (p.Arg41Met) variant of HBD (Hemoglobin subunit delta)
R41M (p.Arg41Met) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
R41M (p.Arg41Met) variant details
- p.Arg41Met
- TOPMed rs1240307704
- gnomAD rs1240307704
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.91
- MetaSVM 0.99
- CADD 25.60
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available