G23G (p.Gly23Gly) variant of HBA1 (Hemoglobin subunit alpha)
G23G (p.Gly23Gly) in HBA1 (Hemoglobin subunit alpha) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
G23G (p.Gly23Gly) variant details
- p.Gly23Gly
- rs63751457
- gnomAD 16-172981-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.18
- CADD 16.20
- Most common in the South Asian population (allele frequency 0.00018)
- Structural context available
- Cited in: An alpha-thalassemia phenotype in a Dutch Hindustani, caused by a new point mutation that creates an alternative splice… (PMID 15481895)