K8K (p.Lys8Lys) variant of HBA1 (Hemoglobin subunit alpha)
K8K (p.Lys8Lys) in HBA1 (Hemoglobin subunit alpha) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
K8K (p.Lys8Lys) variant details
- p.Lys8Lys
- gnomAD 16-172936-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.233
- CADD 11.20
- Most common in the REMAINING population (allele frequency 5.4e-05)
- Structural context available
- Literature evidence available