S10T (p.Ser10Thr) variant of HBB (Hemoglobin subunit beta)
S10T (p.Ser10Thr) in HBB (Hemoglobin subunit beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S10T (p.Ser10Thr) variant details
- p.Ser10Thr
- gnomAD 11-5226994-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.57
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.32
- MetaSVM -0.78
- CADD 0.00
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Literature evidence available