G30G (p.Gly30Gly) variant of HBD (Hemoglobin subunit delta)
G30G (p.Gly30Gly) in HBD (Hemoglobin subunit delta) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
G30G (p.Gly30Gly) variant details
- p.Gly30Gly
- rs1223305519
- gnomAD 11-5234344-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.481
- CADD 23.30
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available