S45T (p.Ser45Thr) variant of HBD (Hemoglobin subunit delta)
S45T (p.Ser45Thr) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S45T (p.Ser45Thr) variant details
- p.Ser45Thr
- gnomAD rs1306903271
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.55
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.67
- MetaSVM -0.33
- CADD 0.49
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available