E44K (p.Glu44Lys) variant of HBD (Hemoglobin subunit delta)
E44K (p.Glu44Lys) 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) MELBOURNE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
E44K (p.Glu44Lys) variant details
- p.Glu44Lys
- rs35166721
- ClinGen CA124653
- ClinVar RCV000016198
- UniProt VAR 003107
- other
- HEMOGLOBIN A(2) MELBOURNE
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- ESM-1b 0.00
- AlphaMissense 0.52
- MetaLR 0.58
- MetaSVM -0.39
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: other (HEMOGLOBIN A(2) MELBOURNE)
- EBI: Benign (in Melbourne)
- UniProt: Benign (in Melbourne)
- Structural context available
- Cited in: A new delta chain variant, haemoglobin-A2-Melbourne or alpha2 delta2 43Glu-Lys(CD2). (PMID 4850239)