A14L (p.Ala14Leu) variant of HBB (Hemoglobin subunit beta)
A14L (p.Ala14Leu) in HBB (Hemoglobin subunit beta) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A14L (p.Ala14Leu) variant details
- p.Ala14Leu
- gnomAD 11-5226983-A-AAG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.0898
- CADD 1.29
- Population evidence available
- Structural context available
- Literature evidence available