D53D (p.Asp53Asp) variant of HBD (Hemoglobin subunit delta)
D53D (p.Asp53Asp) in HBD (Hemoglobin subunit delta) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
D53D (p.Asp53Asp) variant details
- p.Asp53Asp
- gnomAD 11-5234147-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.645
- CADD 9.63
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available