W38S (p.Trp38Ser) variant of HBD (Hemoglobin subunit delta)
W38S (p.Trp38Ser) in HBD (Hemoglobin subunit delta) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
W38S (p.Trp38Ser) variant details
- p.Trp38Ser
- gnomAD rs35887507
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.61
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.74
- MetaSVM 0.58
- CADD 25.40
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available