G91E (p.Gly91Glu) variant of SERPINA1 (Alpha-1-antitrypsin)
G91E (p.Gly91Glu) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic; other in the context of Alpha-1-antitrypsin deficiency; PI M(MINERAL SPRINGS). The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
G91E (p.Gly91Glu) variant details
- p.Gly91Glu
- rs28931568
- ClinGen CA127674
- ClinVar RCV000019566
- ClinVar RCV000201855
- Pathogenic; other
- Alpha-1-antitrypsin deficiency; PI M(MINERAL SPRINGS)
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- AlphaMissense 0.88
- MetaLR 0.94
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic; other (Alpha-1-antitrypsin deficiency; PI M(MINERAL SPRINGS))
- EBI: Pathogenic (in A1ATD)
- UniProt: Pathogenic (in A1ATD)
- Structural context available
- Cited in: Molecular basis of alpha 1-antitrypsin deficiency and emphysema associated with the alpha 1-antitrypsin Mmineral… (PMID 1967187)
- Cited in: The alpha 1-antitrypsin gene and its deficiency states. (PMID 2696185)