L49P (p.Leu49Pro) variant of HBD (Hemoglobin subunit delta)
L49P (p.Leu49Pro) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L49P (p.Leu49Pro) variant details
- p.Leu49Pro
- rs1564878593
- gnomAD 11-5233021-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.24
- ESM-1b 1.00
- AlphaMissense 0.94
- CADD 9.88
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available