K9V (p.Lys9Val) variant of HBB (Hemoglobin subunit beta)
K9V (p.Lys9Val) in HBB (Hemoglobin subunit beta) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
K9V (p.Lys9Val) variant details
- p.Lys9Val
- rs35497102
- gnomAD 11-5226995-CTT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.497
- CADD 24.70
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available