K41P (p.Lys41Pro) variant of HBA1 (Hemoglobin subunit alpha)
K41P (p.Lys41Pro) in HBA1 (Hemoglobin subunit alpha) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
K41P (p.Lys41Pro) variant details
- p.Lys41Pro
- gnomAD 16-173149-CAAGA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.473
- CADD 33.00
- Most common in the Middle Eastern population (allele frequency 0.00039)
- Structural context available
- Literature evidence available