G16V (p.Gly16Val) variant of HBA1 (Hemoglobin subunit alpha)
G16V (p.Gly16Val) in HBA1 (Hemoglobin subunit alpha) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G16V (p.Gly16Val) variant details
- p.Gly16Val
- gnomAD 16-172955-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.542
- CADD 25.60
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available