T109M (p.Thr109Met) variant of SERPINA1 (Alpha-1-antitrypsin)
T109M (p.Thr109Met) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Alpha-1-antitrypsin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
T109M (p.Thr109Met) variant details
- p.Thr109Met
- rs199422213
- ClinGen CA127741
- cosmic curated COSV63345
- ClinVar RCV000019609
- Uncertain significance
- not provided; Alpha-1-antitrypsin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.59
- CADD 23.00
- PolyPhen-2 0.85
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Alpha-1-antitrypsin deficiency)
- EBI: Benign (in Z-Bristol)
- UniProt: Benign (in Z-Bristol)
- Most common in the HGDP:KALASH population (allele frequency 0.048)
- Structural context available
- Cited in: A new alpha 1-antitrypsin mutation, Thr-Met 85, (PI Zbristol) associated with novel electrophoretic properties. (PMID 9459000)
- Cited in: American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of… (PMID 14522813)