E28G (p.Glu28Gly) variant of HBA1 (Hemoglobin subunit alpha)
E28G (p.Glu28Gly) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of HEMOGLOBIN G (FORT WORTH); HEMOGLOBIN FORT WORTH. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
E28G (p.Glu28Gly) variant details
- p.Glu28Gly
- rs33964507
- ClinGen CA125729
- ClinVar RCV000017023
- ClinVar RCV000017024
- other
- HEMOGLOBIN G (FORT WORTH); HEMOGLOBIN FORT WORTH
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.86
- MetaLR 0.89
- MetaSVM 0.92
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: other (HEMOGLOBIN G (FORT WORTH); HEMOGLOBIN FORT WORTH)
- EBI: Benign (in Fort Worth)
- UniProt: Benign (in Fort Worth)
- Most common in the Non-Finnish European population (allele frequency 3.9e-06)
- Structural context available
- Cited in: Hb Fort Worth or alpha2 27(B8)Glu----Gly beta2 in a black family from Canada. (PMID 3839776)
- Cited in: Hb Ft. Worth: a27Glu changed to Gly(B8). A variant present in unusually low concentration. (PMID 5122655)