E24K (p.Glu24Lys) variant of HBA1 (Hemoglobin subunit alpha)
E24K (p.Glu24Lys) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
E24K (p.Glu24Lys) variant details
- p.Glu24Lys
- rs33939620
- ClinGen CA125693
- ClinVar RCV000017003
- ClinVar RCV006258929
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.54
- MetaLR 0.65
- MetaSVM 0.01
- CADD 12.50
- PolyPhen-2 0.01
- SIFT 0.55
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in Chad)
- UniProt: Uncertain significance (in Chad)
- Most common in the South Asian population (allele frequency 4.5e-05)
- Structural context available
- Cited in: A survey of hemoglobins in the Republic of Chad and characterization of hemoglobin Chad:alpha-2-23Glu--Lys-beta-2. (PMID 5714528)