M56I (p.Met56Ile) variant of HBD (Hemoglobin subunit delta)
M56I (p.Met56Ile) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
M56I (p.Met56Ile) variant details
- p.Met56Ile
- gnomAD 11-5234138-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.54
- ESM-1b 1.00
- AlphaMissense 0.49
- MetaLR 0.70
- MetaSVM 0.01
- CADD 14.50
- Most common in the African/African-American population (allele frequency 0.00046)
- Structural context available
- Literature evidence available