L4L (p.Leu4Leu) variant of HBB (Hemoglobin subunit beta)
L4L (p.Leu4Leu) in HBB (Hemoglobin subunit beta) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L4L (p.Leu4Leu) variant details
- p.Leu4Leu
- rs34126315
- gnomAD 11-5227012-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.386
- CADD 6.21
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- Literature evidence available