L49L (p.Leu49Leu) variant of HBD (Hemoglobin subunit delta)
L49L (p.Leu49Leu) in HBD (Hemoglobin subunit delta) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L49L (p.Leu49Leu) variant details
- p.Leu49Leu
- rs905938293
- gnomAD 11-5234159-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.265
- CADD 6.90
- Most common in the African/African-American population (allele frequency 0.001)
- Structural context available
- Literature evidence available