G57S (p.Gly57Ser) variant of HBD (Hemoglobin subunit delta)
G57S (p.Gly57Ser) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
G57S (p.Gly57Ser) variant details
- p.Gly57Ser
- ExAC rs753525863
- TOPMed rs753525863
- gnomAD rs753525863
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.48
- ESM-1b 1.00
- AlphaMissense 0.08
- MetaLR 0.73
- MetaSVM 0.13
- CADD 7.08
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available