P59L (p.Pro59Leu) variant of HBD (Hemoglobin subunit delta)
P59L (p.Pro59Leu) in HBD (Hemoglobin subunit delta) is a missense 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.
P59L (p.Pro59Leu) variant details
- p.Pro59Leu
- rs756655365
- gnomAD 11-5233018-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.17
- ESM-1b 1.00
- AlphaMissense 0.18
- CADD 7.69
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available