L30L (p.Leu30Leu) variant of HBA1 (Hemoglobin subunit alpha)
L30L (p.Leu30Leu) in HBA1 (Hemoglobin subunit alpha) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L30L (p.Leu30Leu) variant details
- p.Leu30Leu
- gnomAD 16-173000-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.399
- CADD 13.70
- Population evidence available
- Structural context available
- Literature evidence available