I116N (p.Ile116Asn) variant of SERPINA1 (Alpha-1-antitrypsin)
I116N (p.Ile116Asn) 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 NULL(LUDWIGSHAFEN); PI Q0(LUDWIGSHAFEN). The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
I116N (p.Ile116Asn) variant details
- p.Ile116Asn
- rs28931572
- ClinGen CA127736
- ClinVar RCV000019601
- ClinVar RCV000019602
- Pathogenic; other
- Alpha-1-antitrypsin deficiency; PI NULL(LUDWIGSHAFEN); PI Q0(LUDWIGSHAFEN)
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- AlphaMissense 0.62
- MetaLR 0.83
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic; other (Alpha-1-antitrypsin deficiency; PI NULL(LUDWIGSHAFEN); PI Q0(LUD)
- EBI: Pathogenic (in A1ATD)
- UniProt: Pathogenic (in A1ATD)
- Structural context available
- Cited in: Alpha 1-antitrypsin deficiency, emphysema, and liver disease. Genetic basis and strategies for therapy. (PMID 2185272)
- Cited in: A null deficiency allele of alpha 1-antitrypsin, QOludwigshafen, with altered tertiary structure. (PMID 2254451)