E44G (p.Glu44Gly) variant of HBD (Hemoglobin subunit delta)
E44G (p.Glu44Gly) 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) AGRINIO. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
E44G (p.Glu44Gly) variant details
- p.Glu44Gly
- rs36084266
- ClinGen CA124695
- ClinVar RCV000016231
- UniProt VAR 003106
- other
- HEMOGLOBIN A(2) AGRINIO
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.60
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.55
- MetaSVM -0.41
- CADD 15.10
- ClinVar: other (HEMOGLOBIN A(2) AGRINIO)
- EBI: Benign (in Agrinio)
- UniProt: Benign (in Agrinio)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Hb A2-Agrinio [delta 43(CD2)Glu-->Gly(GAG-->GGG)]: a new delta chain variant detected in a Greek family. (PMID 8537235)