V21E (p.Val21Glu) variant of HBD (Hemoglobin subunit delta)
V21E (p.Val21Glu) 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) ROOSEVELT. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
V21E (p.Val21Glu) variant details
- p.Val21Glu
- rs34093840
- ClinGen CA124657
- ClinVar RCV000016201
- UniProt VAR 003100
- other
- HEMOGLOBIN A(2) ROOSEVELT
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- ESM-1b 1.00
- AlphaMissense 0.60
- MetaLR 0.52
- MetaSVM -0.41
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: other (HEMOGLOBIN A(2) ROOSEVELT)
- EBI: Benign (in Roosevelt)
- UniProt: Benign (in Roosevelt)
- Structural context available
- Cited in: Hemoglobin A2-Roosevelt: alpha 2 delta 2 20Val replaced by Glu. (PMID 952968)