A23E (p.Ala23Glu) variant of HBD (Hemoglobin subunit delta)
A23E (p.Ala23Glu) in HBD (Hemoglobin subunit delta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of HEMOGLOBIN A(2) FLATBUSH; HEMOGLOBIN FLATBUSH (GEORGIA). The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A23E (p.Ala23Glu) variant details
- p.Ala23Glu
- rs35395083
- ClinGen CA124645
- ClinVar RCV000016193
- ClinVar RCV000016194
- other
- HEMOGLOBIN A(2) FLATBUSH; HEMOGLOBIN FLATBUSH (GEORGIA)
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.50
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.16
- MetaSVM -0.85
- CADD 0.72
- ClinVar: other (HEMOGLOBIN A(2) FLATBUSH; HEMOGLOBIN FLATBUSH (GEORGIA))
- EBI: Benign (in Flatbush)
- UniProt: Benign (in Flatbush)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: A VARIANT OF HEMOGLOBIN A2 FOUND IN A NEGRO FAMILY. (PMID 14236725)
- Cited in: Structural characterization of two delta chain variants. Hemoglobin A'-2 (B2) and hemoglobin Flatbush. (PMID 6058951)