K41S (p.Lys41Ser) variant of HBA1 (Hemoglobin subunit alpha)
K41S (p.Lys41Ser) in HBA1 (Hemoglobin subunit alpha) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
K41S (p.Lys41Ser) variant details
- p.Lys41Ser
- gnomAD 16-173148-C-CTT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.568
- CADD 32.00
- Most common in the Middle Eastern population (allele frequency 0.00039)
- Structural context available
- Literature evidence available