K18Q (p.Lys18Gln) variant of HBD (Hemoglobin subunit delta)
K18Q (p.Lys18Gln) in HBD (Hemoglobin subunit delta) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
K18Q (p.Lys18Gln) variant details
- p.Lys18Gln
- gnomAD 11-5234383-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.279
- CADD 18.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available