A14S (p.Ala14Ser) variant of HBD (Hemoglobin subunit delta)
A14S (p.Ala14Ser) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A14S (p.Ala14Ser) variant details
- p.Ala14Ser
- ExAC rs772497026
- gnomAD rs772497026
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.48
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.23
- MetaSVM -0.81
- CADD 0.31
- Most common in the HGDP:YORUBA population (allele frequency 0.071)
- Structural context available