D48D (p.Asp48Asp) variant of HBD (Hemoglobin subunit delta)
D48D (p.Asp48Asp) in HBD (Hemoglobin subunit delta) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
D48D (p.Asp48Asp) variant details
- p.Asp48Asp
- rs758478152
- gnomAD 11-5234162-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.401
- CADD 8.62
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available